Canonical Allele Identifier: CA2577185131

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188988659-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988662del , CM000664.2:g.188988662del	GRCh38
NC_000002.11:g.189853388del , CM000664.1:g.189853388del	GRCh37
NC_000002.10:g.189561633del	NCBI36
NG_007404.1:g.19290del , LRG_3:g.19290del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.636+19del	ENSP00000415346.2:n.636+19del
ENST00000304636.9:c.636+19del MANE Select	ENSP00000304408.4:n.636+19del
ENST00000304636.7:c.636+19del	ENSP00000304408.3:n.636+19del
ENST00000317840.9:c.636+19del	ENSP00000315243.6:n.636+19del
NM_000090.3:c.636+19del , LRG_3t1:c.636+19del	NP_000081.1:n.636+19del
NM_000090.4:c.636+19del MANE Select	NP_000081.2:n.636+19del