Canonical Allele Identifier: CA2662310065

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 2775128
• ClinVar RCV Id: RCV003528765
• gnomAD v4: 2-189004142-CAGTA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004148_189004151del , CM000664.2:g.189004148_189004151del	GRCh38
NC_000002.11:g.189868874_189868877del , CM000664.1:g.189868874_189868877del	GRCh37
NC_000002.10:g.189577119_189577122del	NCBI36
NG_007404.1:g.34776_34779del , LRG_3:g.34776_34779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2724+5_2724+8del
ENST00000304636.9:c.2823+5_2823+8del
ENST00000304636.7:c.2823+5_2823+8del
ENST00000317840.9:c.2527+1112_2527+1115del	ENSP00000315243.6:n.2527+1112_2527+1115del
NM_000090.3:c.2823+5_2823+8del , LRG_3t1:c.2823+5_2823+8del
NM_000090.4:c.2823+5_2823+8del