Canonical Allele Identifier: CA2701312693

Gene: COL3A1

Linked Data

• dbSNP Id: rs2153502391

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188994413del , CM000664.2:g.188994413del	GRCh38
NC_000002.11:g.189859139del , CM000664.1:g.189859139del	GRCh37
NC_000002.10:g.189567384del	NCBI36
NG_007404.1:g.25041del , LRG_3:g.25041del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1194+81del	ENSP00000415346.2:n.1194+81del
ENST00000304636.9:c.1293+81del MANE Select	ENSP00000304408.4:n.1293+81del
ENST00000304636.7:c.1293+81del	ENSP00000304408.3:n.1293+81del
ENST00000317840.9:c.1293+81del	ENSP00000315243.6:n.1293+81del
NM_000090.3:c.1293+81del , LRG_3t1:c.1293+81del	NP_000081.1:n.1293+81del
NM_000090.4:c.1293+81del MANE Select	NP_000081.2:n.1293+81del