Canonical Allele Identifier: CA62589799

Gene: COL3A1

Linked Data

• dbSNP Id: rs1553507380

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188989623delinsAC , CM000664.2:g.188989623delinsAC	GRCh38
NC_000002.11:g.189854349delinsAC , CM000664.1:g.189854349delinsAC	GRCh37
NC_000002.10:g.189562594delinsAC	NCBI36
NG_007404.1:g.20251delinsAC , LRG_3:g.20251delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.690+174delinsAC	ENSP00000415346.2:n.690+174delinsAC
ENST00000304636.9:c.690+174delinsAC MANE Select	ENSP00000304408.4:n.690+174delinsAC
ENST00000304636.7:c.690+174delinsAC	ENSP00000304408.3:n.690+174delinsAC
ENST00000317840.9:c.690+174delinsAC	ENSP00000315243.6:n.690+174delinsAC
NM_000090.3:c.690+174delinsAC , LRG_3t1:c.690+174delinsAC	NP_000081.1:n.690+174delinsAC
NM_000090.4:c.690+174delinsAC MANE Select	NP_000081.2:n.690+174delinsAC