Canonical Allele Identifier: CA645373265
Gene: COMP HGNC NCBI

Linked Data

ClinVar Variation Id: 9192
ClinVar RCV Id: RCV000009770
dbSNP Id: rs193922900

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786045_18786050dup , CM000681.2:g.18786045_18786050dup GRCh38
NC_000019.9:g.18896855_18896860dup , CM000681.1:g.18896855_18896860dup GRCh37
NC_000019.8:g.18757855_18757860dup NCBI36
NG_007070.1:g.10265_10270dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1414_1419dup MANE Select ENSP00000222271.2:p.Asp473_Asn474insAspAsp
ENST00000222271.6:c.1414_1419dup ENSP00000222271.2:p.Asp473_Asn474insAspAsp
ENST00000425807.1:c.1255_1260dup ENSP00000403792.1:p.Asp420_Asn421insAspAsp
ENST00000542601.6:c.1315_1320dup ENSP00000439156.2:p.Asp440_Asn441insAspAsp
NM_000095.2:c.1414_1419dup NP_000086.2:p.Asp473_Asn474insAspAsp
NM_000095.3:c.1414_1419dup MANE Select NP_000086.2:p.Asp473_Asn474insAspAsp