Canonical Allele Identifier: CA994237938

Gene: COMP

Linked Data

• gnomAD v3: 19-18787895-T-TTTTTTTTTAGACAGAG
• gnomAD v4: 19-18787895-T-TTTTTTTTTAGACAGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787897_18787898insTTTTTTAGACAGAGTT , CM000681.2:g.18787897_18787898insTTTTTTAGACAGAGTT	GRCh38
NC_000019.9:g.18898706_18898707insTTTTTTAGACAGAGTT , CM000681.1:g.18898706_18898707insTTTTTTAGACAGAGTT	GRCh37
NC_000019.8:g.18759706_18759707insTTTTTTAGACAGAGTT	NCBI36
NG_007070.1:g.8410_8411insCTCTGTCTAAAAAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-246_976-245insCTCTGTCTAAAAAAAA MANE Select	ENSP00000222271.2:n.976-246_976-245insCTCTGTCTAAAAAAAA
ENST00000222271.6:c.976-246_976-245insCTCTGTCTAAAAAAAA	ENSP00000222271.2:n.976-246_976-245insCTCTGTCTAAAAAAAA
ENST00000425807.1:c.817-246_817-245insCTCTGTCTAAAAAAAA	ENSP00000403792.1:n.817-246_817-245insCTCTGTCTAAAAAAAA
ENST00000542601.6:c.877-246_877-245insCTCTGTCTAAAAAAAA	ENSP00000439156.2:n.877-246_877-245insCTCTGTCTAAAAAAAA
NM_000095.2:c.976-246_976-245insCTCTGTCTAAAAAAAA	NP_000086.2:n.976-246_976-245insCTCTGTCTAAAAAAAA
NM_000095.3:c.976-246_976-245insCTCTGTCTAAAAAAAA MANE Select	NP_000086.2:n.976-246_976-245insCTCTGTCTAAAAAAAA