Canonical Allele Identifier: CA2509690312
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787917_18787918insCTTTCTTTCTTTCTTTCTTTC , CM000681.2:g.18787917_18787918insCTTTCTTTCTTTCTTTCTTTC GRCh38
NC_000019.9:g.18898726_18898727insCTTTCTTTCTTTCTTTCTTTC , CM000681.1:g.18898726_18898727insCTTTCTTTCTTTCTTTCTTTC GRCh37
NC_000019.8:g.18759726_18759727insCTTTCTTTCTTTCTTTCTTTC NCBI36
NG_007070.1:g.8388_8389insGAAAGAAAGAAAGAAAGAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG MANE Select ENSP00000222271.2:n.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG
ENST00000222271.6:c.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG ENSP00000222271.2:n.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG
ENST00000425807.1:c.817-268_817-267insGAAAGAAAGAAAGAAAGAAAG ENSP00000403792.1:n.817-268_817-267insGAAAGAAAGAAAGAAAGAAAG
ENST00000542601.6:c.877-268_877-267insGAAAGAAAGAAAGAAAGAAAG ENSP00000439156.2:n.877-268_877-267insGAAAGAAAGAAAGAAAGAAAG
NM_000095.2:c.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG NP_000086.2:n.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG
NM_000095.3:c.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG MANE Select NP_000086.2:n.976-268_976-267insGAAAGAAAGAAAGAAAGAAAG