Canonical Allele Identifier: CA2326526492
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787870_18787888delinsCTTTCTTTCTTTCTTTCTT , CM000681.2:g.18787870_18787888delinsCTTTCTTTCTTTCTTTCTT GRCh38
NC_000019.9:g.18898679_18898697delinsCTTTCTTTCTTTCTTTCTT , CM000681.1:g.18898679_18898697delinsCTTTCTTTCTTTCTTTCTT GRCh37
NC_000019.8:g.18759679_18759697delinsCTTTCTTTCTTTCTTTCTT NCBI36
NG_007070.1:g.8418_8436delinsAAGAAAGAAAGAAAGAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG MANE Select ENSP00000222271.2:n.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG
ENST00000222271.6:c.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG ENSP00000222271.2:n.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG
ENST00000425807.1:c.817-238_817-220delinsAAGAAAGAAAGAAAGAAAG ENSP00000403792.1:n.817-238_817-220delinsAAGAAAGAAAGAAAGAAAG
ENST00000542601.6:c.877-238_877-220delinsAAGAAAGAAAGAAAGAAAG ENSP00000439156.2:n.877-238_877-220delinsAAGAAAGAAAGAAAGAAAG
NM_000095.2:c.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG NP_000086.2:n.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG
NM_000095.3:c.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG MANE Select NP_000086.2:n.976-238_976-220delinsAAGAAAGAAAGAAAGAAAG