Canonical Allele Identifier: CA2326525535
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18786032_18786038delinsATTGTCG , CM000681.2:g.18786032_18786038delinsATTGTCG GRCh38
NC_000019.9:g.18896842_18896848delinsATTGTCG , CM000681.1:g.18896842_18896848delinsATTGTCG GRCh37
NC_000019.8:g.18757842_18757848delinsATTGTCG NCBI36
NG_007070.1:g.10267_10273delinsCGACAAT

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1416_1422delinsCGACAAT MANE Select ENSP00000222271.2:p.Asp472=
ENST00000222271.6:c.1416_1422delinsCGACAAT ENSP00000222271.2:p.Asp472=
ENST00000425807.1:c.1257_1263delinsCGACAAT ENSP00000403792.1:p.Asp419=
ENST00000542601.6:c.1317_1323delinsCGACAAT ENSP00000439156.2:p.Asp439=
NM_000095.2:c.1416_1422delinsCGACAAT NP_000086.2:p.Asp472=
NM_000095.3:c.1416_1422delinsCGACAAT MANE Select NP_000086.2:p.Asp472=