Canonical Allele Identifier: CA16610593
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 404299
dbSNP Id: rs1060500199

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188996168del , CM000664.2:g.188996168del GRCh38
NC_000002.11:g.189860894del , CM000664.1:g.189860894del GRCh37
NC_000002.10:g.189569139del NCBI36
NG_007404.1:g.26796del , LRG_3:g.26796del

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.1553del ENSP00000415346.2:p.Pro518GlnfsTer?
ENST00000304636.9:c.1652del MANE Select ENSP00000304408.4:p.Pro551GlnfsTer?
ENST00000304636.7:c.1652del ENSP00000304408.3:p.Pro551GlnfsTer?
ENST00000317840.9:c.1652del ENSP00000315243.6:p.Pro551GlnfsTer?
NM_000090.3:c.1652del , LRG_3t1:c.1652del NP_000081.1:p.Pro551GlnfsTer?
NM_000090.4:c.1652del MANE Select NP_000081.2:p.Pro551GlnfsTer?