Canonical Allele Identifier: CA2326526506
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787872_18787890delinsTTCTTTCTTTCTTTCTTTC , CM000681.2:g.18787872_18787890delinsTTCTTTCTTTCTTTCTTTC GRCh38
NC_000019.9:g.18898681_18898699delinsTTCTTTCTTTCTTTCTTTC , CM000681.1:g.18898681_18898699delinsTTCTTTCTTTCTTTCTTTC GRCh37
NC_000019.8:g.18759681_18759699delinsTTCTTTCTTTCTTTCTTTC NCBI36
NG_007070.1:g.8416_8434delinsGAAAGAAAGAAAGAAAGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA MANE Select ENSP00000222271.2:n.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA
ENST00000222271.6:c.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA ENSP00000222271.2:n.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA
ENST00000425807.1:c.817-240_817-222delinsGAAAGAAAGAAAGAAAGAA ENSP00000403792.1:n.817-240_817-222delinsGAAAGAAAGAAAGAAAGAA
ENST00000542601.6:c.877-240_877-222delinsGAAAGAAAGAAAGAAAGAA ENSP00000439156.2:n.877-240_877-222delinsGAAAGAAAGAAAGAAAGAA
NM_000095.2:c.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA NP_000086.2:n.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA
NM_000095.3:c.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA MANE Select NP_000086.2:n.976-240_976-222delinsGAAAGAAAGAAAGAAAGAA