Gene: COL17A1 ENSG00000065618

Description

collagen, type XVII, alpha 1 [Source:HGNC Symbol;Acc:2194]

Gene Synonyms

BA16H23.2, BP180, BPA-2, BPAG2, LAD-1

Location

Chromosome 10: 105,791,044-105,845,760 reverse strand.

GRCh37:CM000672.1

About this gene

This gene has 7 transcripts (splice variants), 9 paralogues and is associated with 7 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000353479.5	COL17A1-001	5734	1497aa	ENSP00000340937.5	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS7554	Q9UMD9	NM_000494.3	A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000369733.3	COL17A1-003	5488	1415aa	ENSP00000358748.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q9UMD9	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000393211.3	COL17A1-007	1610	417aa	ENSP00000376905.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		A2A2Y8	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000433822.1	COL17A1-002	537	66aa	ENSP00000388832.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000480127.1	COL17A1-006	420	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000488320.1	COL17A1-005	626	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-
ENST00000483876.1	COL17A1-004	622	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Gene: COL17A1 ENSG00000065618

Summary

EMBL-EBI User Survey 2024

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Gene: COL17A1 ENSG00000065618

Summary