Canonical Allele Identifier: CA2662310025

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189003910-AAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003912_189003914del , CM000664.2:g.189003912_189003914del	GRCh38
NC_000002.11:g.189868638_189868640del , CM000664.1:g.189868638_189868640del	GRCh37
NC_000002.10:g.189576883_189576885del	NCBI36
NG_007404.1:g.34540_34542del , LRG_3:g.34540_34542del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2563-70_2563-68del	ENSP00000415346.2:n.2563-70_2563-68del
ENST00000304636.9:c.2662-70_2662-68del MANE Select	ENSP00000304408.4:n.2662-70_2662-68del
ENST00000304636.7:c.2662-70_2662-68del	ENSP00000304408.3:n.2662-70_2662-68del
ENST00000317840.9:c.2527+876_2527+878del	ENSP00000315243.6:n.2527+876_2527+878del
ENST00000467886.1:n.221_223del
NM_000090.3:c.2662-70_2662-68del , LRG_3t1:c.2662-70_2662-68del	NP_000081.1:n.2662-70_2662-68del
NM_000090.4:c.2662-70_2662-68del MANE Select	NP_000081.2:n.2662-70_2662-68del