Canonical Allele Identifier: CA784291714

Gene: COL8A1

Linked Data

• dbSNP Id: rs1453569070
• MyVariant Identifiers: chr3:g.99396239_99396240insTCAT (hg19) ; chr3:g.99677395_99677396insTCAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.99677397_99677400dup , CM000665.2:g.99677397_99677400dup	GRCh38
NC_000003.11:g.99396241_99396244dup , CM000665.1:g.99396241_99396244dup	GRCh37
NC_000003.10:g.100878931_100878934dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000652472.1:c.-129+38733_-129+38736dup MANE Select	ENSP00000498483.1:n.-129+38733_-129+38736dup
ENST00000261037.7:c.-129+1676_-129+1679dup	ENSP00000261037.3:n.-129+1676_-129+1679dup
ENST00000273342.8:c.-129+38733_-129+38736dup	ENSP00000273342.3:n.-129+38733_-129+38736dup
ENST00000452013.5:c.-129+38733_-129+38736dup	ENSP00000387589.1:n.-129+38733_-129+38736dup
ENST00000463753.5:n.253-354_253-351dup
ENST00000474648.5:n.252+1676_252+1679dup
ENST00000483969.5:n.252+1676_252+1679dup
ENST00000621757.1:c.-298-14002_-298-13999dup	ENSP00000482679.1:n.-298-14002_-298-13999dup
NM_001850.4:c.-129+1676_-129+1679dup	NP_001841.2:n.-129+1676_-129+1679dup
NM_020351.3:c.-129+38733_-129+38736dup	NP_065084.2:n.-129+38733_-129+38736dup
NM_020351.4:c.-129+38733_-129+38736dup MANE Select	NP_065084.2:n.-129+38733_-129+38736dup
NM_001850.5:c.-129+1676_-129+1679dup	NP_001841.2:n.-129+1676_-129+1679dup