Canonical Allele Identifier: CA2662311403

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189008871-AGAGTGGCGACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008874_189008884del , CM000664.2:g.189008874_189008884del	GRCh38
NC_000002.11:g.189873600_189873610del , CM000664.1:g.189873600_189873610del	GRCh37
NC_000002.10:g.189581845_189581855del	NCBI36
NG_007404.1:g.39502_39512del , LRG_3:g.39502_39512del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3427-50_3427-40del	ENSP00000415346.2:n.3427-50_3427-40del
ENST00000304636.9:c.3526-50_3526-40del MANE Select	ENSP00000304408.4:n.3526-50_3526-40del
ENST00000304636.7:c.3526-50_3526-40del	ENSP00000304408.3:n.3526-50_3526-40del
ENST00000317840.9:c.2617-50_2617-40del	ENSP00000315243.6:n.2617-50_2617-40del
ENST00000487010.1:n.573_583del
NM_000090.3:c.3526-50_3526-40del , LRG_3t1:c.3526-50_3526-40del	NP_000081.1:n.3526-50_3526-40del
NM_000090.4:c.3526-50_3526-40del MANE Select	NP_000081.2:n.3526-50_3526-40del