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

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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	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