Canonical Allele Identifier: CA2662309714

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189003077-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003080dup , CM000664.2:g.189003080dup	GRCh38
NC_000002.11:g.189867806dup , CM000664.1:g.189867806dup	GRCh37
NC_000002.10:g.189576051dup	NCBI36
NG_007404.1:g.33708dup , LRG_3:g.33708dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.2454+18dup	ENSP00000415346.2:n.2454+18dup
ENST00000304636.9:c.2553+18dup MANE Select	ENSP00000304408.4:n.2553+18dup
ENST00000304636.7:c.2553+18dup	ENSP00000304408.3:n.2553+18dup
ENST00000317840.9:c.2527+44dup	ENSP00000315243.6:n.2527+44dup
NM_000090.3:c.2553+18dup , LRG_3t1:c.2553+18dup	NP_000081.1:n.2553+18dup
NM_000090.4:c.2553+18dup MANE Select	NP_000081.2:n.2553+18dup