Canonical Allele Identifier: CA784291707

Gene: COL8A1

Linked Data

• dbSNP Id: rs1193301041
• MyVariant Identifiers: chr3:g.99396236_99396237insCAGT (hg19) ; chr3:g.99677392_99677393insCAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.99677395_99677398dup , CM000665.2:g.99677395_99677398dup	GRCh38
NC_000003.11:g.99396239_99396242dup , CM000665.1:g.99396239_99396242dup	GRCh37
NC_000003.10:g.100878929_100878932dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652472.1:c.-129+38731_-129+38734dup MANE Select	ENSP00000498483.1:n.-129+38731_-129+38734dup
ENST00000261037.7:c.-129+1674_-129+1677dup	ENSP00000261037.3:n.-129+1674_-129+1677dup
ENST00000273342.8:c.-129+38731_-129+38734dup	ENSP00000273342.3:n.-129+38731_-129+38734dup
ENST00000452013.5:c.-129+38731_-129+38734dup	ENSP00000387589.1:n.-129+38731_-129+38734dup
ENST00000463753.5:n.253-356_253-353dup
ENST00000474648.5:n.252+1674_252+1677dup
ENST00000483969.5:n.252+1674_252+1677dup
ENST00000621757.1:c.-298-14004_-298-14001dup	ENSP00000482679.1:n.-298-14004_-298-14001dup
NM_001850.4:c.-129+1674_-129+1677dup	NP_001841.2:n.-129+1674_-129+1677dup
NM_020351.3:c.-129+38731_-129+38734dup	NP_065084.2:n.-129+38731_-129+38734dup
NM_020351.4:c.-129+38731_-129+38734dup MANE Select	NP_065084.2:n.-129+38731_-129+38734dup
NM_001850.5:c.-129+1674_-129+1677dup	NP_001841.2:n.-129+1674_-129+1677dup