Canonical Allele Identifier: CA077825

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003008dup , CM000664.2:g.189003008dup	GRCh38
NC_000002.11:g.189867734dup , CM000664.1:g.189867734dup	GRCh37
NC_000002.10:g.189575979dup	NCBI36
NG_007404.1:g.33636dup , LRG_3:g.33636dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2400dup	ENSP00000415346.2:p.Gly801ArgfsTer2
ENST00000304636.9:c.2499dup MANE Select	ENSP00000304408.4:p.Gly834ArgfsTer2
ENST00000304636.7:c.2499dup	ENSP00000304408.3:p.Gly834ArgfsTer2
ENST00000317840.9:c.2499dup	ENSP00000315243.6:p.Gly834ArgfsTer2
NM_000090.3:c.2499dup , LRG_3t1:c.2499dup	NP_000081.1:p.Gly834ArgfsTer2
NM_000090.4:c.2499dup MANE Select	NP_000081.2:p.Gly834ArgfsTer2