Canonical Allele Identifier: CA2326526290
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787359_18787361delinsCTT , CM000681.2:g.18787359_18787361delinsCTT GRCh38
NC_000019.9:g.18898168_18898170delinsCTT , CM000681.1:g.18898168_18898170delinsCTT GRCh37
NC_000019.8:g.18759168_18759170delinsCTT NCBI36
NG_007070.1:g.8945_8947delinsAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1135+130_1135+132delinsAAG MANE Select ENSP00000222271.2:n.1135+130_1135+132delinsAAG
ENST00000222271.6:c.1135+130_1135+132delinsAAG ENSP00000222271.2:n.1135+130_1135+132delinsAAG
ENST00000425807.1:c.976+130_976+132delinsAAG ENSP00000403792.1:n.976+130_976+132delinsAAG
ENST00000542601.6:c.1036+130_1036+132delinsAAG ENSP00000439156.2:n.1036+130_1036+132delinsAAG
NM_000095.2:c.1135+130_1135+132delinsAAG NP_000086.2:n.1135+130_1135+132delinsAAG
NM_000095.3:c.1135+130_1135+132delinsAAG MANE Select NP_000086.2:n.1135+130_1135+132delinsAAG