Canonical Allele Identifier: CA1387934100

Gene: COL8A1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.99677455_99677456delinsGT , CM000665.2:g.99677455_99677456delinsGT	GRCh38
NC_000003.11:g.99396299_99396300delinsGT , CM000665.1:g.99396299_99396300delinsGT	GRCh37
NC_000003.10:g.100878989_100878990delinsGT	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000652472.1:c.-129+38791_-129+38792delinsGT MANE Select	ENSP00000498483.1:n.-129+38791_-129+38792delinsGT
ENST00000261037.7:c.-129+1734_-129+1735delinsGT	ENSP00000261037.3:n.-129+1734_-129+1735delinsGT
ENST00000273342.8:c.-129+38791_-129+38792delinsGT	ENSP00000273342.3:n.-129+38791_-129+38792delinsGT
ENST00000452013.5:c.-129+38791_-129+38792delinsGT	ENSP00000387589.1:n.-129+38791_-129+38792delinsGT
ENST00000463753.5:n.253-296_253-295delinsGT
ENST00000474648.5:n.252+1734_252+1735delinsGT
ENST00000483969.5:n.252+1734_252+1735delinsGT
ENST00000621757.1:c.-298-13944_-298-13943delinsGT	ENSP00000482679.1:n.-298-13944_-298-13943delinsGT
NM_001850.4:c.-129+1734_-129+1735delinsGT	NP_001841.2:n.-129+1734_-129+1735delinsGT
NM_020351.3:c.-129+38791_-129+38792delinsGT	NP_065084.2:n.-129+38791_-129+38792delinsGT
NM_020351.4:c.-129+38791_-129+38792delinsGT MANE Select	NP_065084.2:n.-129+38791_-129+38792delinsGT
NM_001850.5:c.-129+1734_-129+1735delinsGT	NP_001841.2:n.-129+1734_-129+1735delinsGT