Canonical Allele Identifier: CA2326526518
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787877_18787894delinsTCTTTCTTTCTTTCTTTC , CM000681.2:g.18787877_18787894delinsTCTTTCTTTCTTTCTTTC GRCh38
NC_000019.9:g.18898686_18898703delinsTCTTTCTTTCTTTCTTTC , CM000681.1:g.18898686_18898703delinsTCTTTCTTTCTTTCTTTC GRCh37
NC_000019.8:g.18759686_18759703delinsTCTTTCTTTCTTTCTTTC NCBI36
NG_007070.1:g.8412_8429delinsGAAAGAAAGAAAGAAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-244_976-227delinsGAAAGAAAGAAAGAAAGA MANE Select ENSP00000222271.2:n.976-244_976-227delinsGAAAGAAAGAAAGAAAGA
ENST00000222271.6:c.976-244_976-227delinsGAAAGAAAGAAAGAAAGA ENSP00000222271.2:n.976-244_976-227delinsGAAAGAAAGAAAGAAAGA
ENST00000425807.1:c.817-244_817-227delinsGAAAGAAAGAAAGAAAGA ENSP00000403792.1:n.817-244_817-227delinsGAAAGAAAGAAAGAAAGA
ENST00000542601.6:c.877-244_877-227delinsGAAAGAAAGAAAGAAAGA ENSP00000439156.2:n.877-244_877-227delinsGAAAGAAAGAAAGAAAGA
NM_000095.2:c.976-244_976-227delinsGAAAGAAAGAAAGAAAGA NP_000086.2:n.976-244_976-227delinsGAAAGAAAGAAAGAAAGA
NM_000095.3:c.976-244_976-227delinsGAAAGAAAGAAAGAAAGA MANE Select NP_000086.2:n.976-244_976-227delinsGAAAGAAAGAAAGAAAGA