Canonical Allele Identifier: CA916081380

Gene: COL3A1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188974570_188974571dup , CM000664.2:g.188974570_188974571dup	GRCh38
NC_000002.11:g.189839296_189839297dup , CM000664.1:g.189839296_189839297dup	GRCh37
NC_000002.10:g.189547541_189547542dup	NCBI36
NG_007404.1:g.5198_5199dup , LRG_3:g.5198_5199dup

Transcript Alleles

HGVS	Amino-acid Change
NM_000090.4:c.79+2_79+3dup MANE Select	NP_000081.2:n.79+2_79+3dup
ENST00000304636.9:c.79+2_79+3dup MANE Select	ENSP00000304408.4:n.79+2_79+3dup
NM_000090.3:c.79+2_79+3dup , LRG_3t1:c.79+2_79+3dup	NP_000081.1:n.79+2_79+3dup
ENST00000304636.7:c.79+2_79+3dup	ENSP00000304408.3:n.79+2_79+3dup
ENST00000317840.9:c.79+2_79+3dup	ENSP00000315243.6:n.79+2_79+3dup
ENST00000450867.2:c.79+2_79+3dup	ENSP00000415346.2:n.79+2_79+3dup
ENST00000470167.1:n.175+2_175+3dup
XR_923687.1:n.1795-4091_1795-4090dup
XR_923688.1:n.1795-4091_1795-4090dup
XR_923689.1:n.90-4091_90-4090dup
XR_923689.3:n.85-4091_85-4090dup