Canonical Allele Identifier: CA2326525504
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785972_18785975delinsGTCC , CM000681.2:g.18785972_18785975delinsGTCC GRCh38
NC_000019.9:g.18896782_18896785delinsGTCC , CM000681.1:g.18896782_18896785delinsGTCC GRCh37
NC_000019.8:g.18757782_18757785delinsGTCC NCBI36
NG_007070.1:g.10330_10333delinsGGAC

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1479_1482delinsGGAC MANE Select ENSP00000222271.2:p.Glu493=
ENST00000222271.6:c.1479_1482delinsGGAC ENSP00000222271.2:p.Glu493=
ENST00000425807.1:c.1320_1323delinsGGAC ENSP00000403792.1:p.Glu440=
ENST00000542601.6:c.1380_1383delinsGGAC ENSP00000439156.2:p.Glu460=
NM_000095.2:c.1479_1482delinsGGAC NP_000086.2:p.Glu493=
NM_000095.3:c.1479_1482delinsGGAC MANE Select NP_000086.2:p.Glu493=