Canonical Allele Identifier: CA913187963

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 3076050
• ClinVar RCV Id: RCV004018368

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988122del , CM000664.2:g.188988122del	GRCh38
NC_000002.11:g.189852848del , CM000664.1:g.189852848del	GRCh37
NC_000002.10:g.189561093del	NCBI36
NG_007404.1:g.18750del , LRG_3:g.18750del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.570del	ENSP00000415346.2:p.Pro191LeufsTer?
ENST00000304636.9:c.570del MANE Select	ENSP00000304408.4:p.Pro191LeufsTer?
ENST00000304636.7:c.570del	ENSP00000304408.3:p.Pro191LeufsTer?
ENST00000317840.9:c.570del	ENSP00000315243.6:p.Pro191LeufsTer?
NM_000090.3:c.570del , LRG_3t1:c.570del	NP_000081.1:p.Pro191LeufsTer?
NM_000090.4:c.570del MANE Select	NP_000081.2:p.Pro191LeufsTer?