Canonical Allele Identifier: CA343853
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 40988
dbSNP Id: rs193922900

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786048_18786050del , CM000681.2:g.18786048_18786050del GRCh38
NC_000019.9:g.18896858_18896860del , CM000681.1:g.18896858_18896860del GRCh37
NC_000019.8:g.18757858_18757860del NCBI36
NG_007070.1:g.10268_10270del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1417_1419del MANE Select ENSP00000222271.2:p.Asp473del
ENST00000222271.6:c.1417_1419del ENSP00000222271.2:p.Asp473del
ENST00000425807.1:c.1258_1260del ENSP00000403792.1:p.Asp420del
ENST00000542601.6:c.1318_1320del ENSP00000439156.2:p.Asp440del
NM_000095.2:c.1417_1419del NP_000086.2:p.Asp473del
NM_000095.3:c.1417_1419del MANE Select NP_000086.2:p.Asp473del