Canonical Allele Identifier: CA2662310679

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189007011-GT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007015del , CM000664.2:g.189007015del	GRCh38
NC_000002.11:g.189871741del , CM000664.1:g.189871741del	GRCh37
NC_000002.10:g.189579986del	NCBI36
NG_007404.1:g.37643del , LRG_3:g.37643del

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.3156+25del	ENSP00000415346.2:n.3156+25del
ENST00000304636.9:c.3255+25del MANE Select	ENSP00000304408.4:n.3255+25del
ENST00000304636.7:c.3255+25del	ENSP00000304408.3:n.3255+25del
ENST00000317840.9:c.2528-1039del	ENSP00000315243.6:n.2528-1039del
NM_000090.3:c.3255+25del , LRG_3t1:c.3255+25del	NP_000081.1:n.3255+25del
NM_000090.4:c.3255+25del MANE Select	NP_000081.2:n.3255+25del