Canonical Allele Identifier: CA2326526379
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787442_18787443delinsCT , CM000681.2:g.18787442_18787443delinsCT GRCh38
NC_000019.9:g.18898251_18898252delinsCT , CM000681.1:g.18898251_18898252delinsCT GRCh37
NC_000019.8:g.18759251_18759252delinsCT NCBI36
NG_007070.1:g.8863_8864delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+48_1135+49delinsAG MANE Select ENSP00000222271.2:n.1135+48_1135+49delinsAG
ENST00000222271.6:c.1135+48_1135+49delinsAG ENSP00000222271.2:n.1135+48_1135+49delinsAG
ENST00000425807.1:c.976+48_976+49delinsAG ENSP00000403792.1:n.976+48_976+49delinsAG
ENST00000542601.6:c.1036+48_1036+49delinsAG ENSP00000439156.2:n.1036+48_1036+49delinsAG
NM_000095.2:c.1135+48_1135+49delinsAG NP_000086.2:n.1135+48_1135+49delinsAG
NM_000095.3:c.1135+48_1135+49delinsAG MANE Select NP_000086.2:n.1135+48_1135+49delinsAG