Canonical Allele Identifier: CA2577185804

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189003880-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003881del , CM000664.2:g.189003881del	GRCh38
NC_000002.11:g.189868607del , CM000664.1:g.189868607del	GRCh37
NC_000002.10:g.189576852del	NCBI36
NG_007404.1:g.34509del , LRG_3:g.34509del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2562+94del	ENSP00000415346.2:n.2562+94del
ENST00000304636.9:c.2661+94del MANE Select	ENSP00000304408.4:n.2661+94del
ENST00000304636.7:c.2661+94del	ENSP00000304408.3:n.2661+94del
ENST00000317840.9:c.2527+845del	ENSP00000315243.6:n.2527+845del
ENST00000467886.1:n.190del
NM_000090.3:c.2661+94del , LRG_3t1:c.2661+94del	NP_000081.1:n.2661+94del
NM_000090.4:c.2661+94del MANE Select	NP_000081.2:n.2661+94del