Canonical Allele Identifier: CA2326526526

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787880_18787890delinsTTCTTTCTTTC , CM000681.2:g.18787880_18787890delinsTTCTTTCTTTC	GRCh38
NC_000019.9:g.18898689_18898699delinsTTCTTTCTTTC , CM000681.1:g.18898689_18898699delinsTTCTTTCTTTC	GRCh37
NC_000019.8:g.18759689_18759699delinsTTCTTTCTTTC	NCBI36
NG_007070.1:g.8416_8426delinsGAAAGAAAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-240_976-230delinsGAAAGAAAGAA MANE Select	ENSP00000222271.2:n.976-240_976-230delinsGAAAGAAAGAA
ENST00000222271.6:c.976-240_976-230delinsGAAAGAAAGAA	ENSP00000222271.2:n.976-240_976-230delinsGAAAGAAAGAA
ENST00000425807.1:c.817-240_817-230delinsGAAAGAAAGAA	ENSP00000403792.1:n.817-240_817-230delinsGAAAGAAAGAA
ENST00000542601.6:c.877-240_877-230delinsGAAAGAAAGAA	ENSP00000439156.2:n.877-240_877-230delinsGAAAGAAAGAA
NM_000095.2:c.976-240_976-230delinsGAAAGAAAGAA	NP_000086.2:n.976-240_976-230delinsGAAAGAAAGAA
NM_000095.3:c.976-240_976-230delinsGAAAGAAAGAA MANE Select	NP_000086.2:n.976-240_976-230delinsGAAAGAAAGAA