Canonical Allele Identifier: CA2499215527
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1065947
ClinVar RCV Id: RCV001376803
dbSNP Id: rs2153501869
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188989407_188989424del , CM000664.2:g.188989407_188989424del GRCh38
NC_000002.11:g.189854133_189854150del , CM000664.1:g.189854133_189854150del GRCh37
NC_000002.10:g.189562378_189562395del NCBI36
NG_007404.1:g.20035_20052del , LRG_3:g.20035_20052del

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.648_665del ENSP00000415346.2:p.Pro217_Gly222del
ENST00000304636.9:c.648_665del MANE Select ENSP00000304408.4:p.Pro217_Gly222del
ENST00000304636.7:c.648_665del ENSP00000304408.3:p.Pro217_Gly222del
ENST00000317840.9:c.648_665del ENSP00000315243.6:p.Pro217_Gly222del
NM_000090.3:c.648_665del , LRG_3t1:c.648_665del NP_000081.1:p.Pro217_Gly222del
NM_000090.4:c.648_665del MANE Select NP_000081.2:p.Pro217_Gly222del
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