Canonical Allele Identifier: CA2662288691

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993518-A-AGTTTCATGCTTACTCCATGAAAGCATG

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993519_188993545dup , CM000664.2:g.188993519_188993545dup	GRCh38
NC_000002.11:g.189858245_189858271dup , CM000664.1:g.189858245_189858271dup	GRCh37
NC_000002.10:g.189566490_189566516dup	NCBI36
NG_007404.1:g.24147_24173dup , LRG_3:g.24147_24173dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1051-519_1051-493dup	ENSP00000415346.2:n.1051-519_1051-493dup
ENST00000304636.9:c.1149+60_1149+86dup MANE Select	ENSP00000304408.4:n.1149+60_1149+86dup
ENST00000304636.7:c.1149+60_1149+86dup	ENSP00000304408.3:n.1149+60_1149+86dup
ENST00000317840.9:c.1149+60_1149+86dup	ENSP00000315243.6:n.1149+60_1149+86dup
ENST00000450867.1:c.149-519_149-493dup
NM_000090.3:c.1149+60_1149+86dup , LRG_3t1:c.1149+60_1149+86dup	NP_000081.1:n.1149+60_1149+86dup
NM_000090.4:c.1149+60_1149+86dup MANE Select	NP_000081.2:n.1149+60_1149+86dup