Canonical Allele Identifier: CA2573156208

Gene: COMP

Linked Data

• ClinVar Variation Id: 1514131
• ClinVar RCV Id: RCV002026522
• dbSNP Id: rs2145904172
• gnomAD v4: 19-18789289-GGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789291_18789292del , CM000681.2:g.18789291_18789292del	GRCh38
NC_000019.9:g.18900100_18900101del , CM000681.1:g.18900100_18900101del	GRCh37
NC_000019.8:g.18761100_18761101del	NCBI36
NG_007070.1:g.7015_7016del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.397_398del MANE Select	ENSP00000222271.2:p.Ala133ProfsTer?
ENST00000222271.6:c.397_398del	ENSP00000222271.2:p.Ala133ProfsTer?
ENST00000425807.1:c.391-399_391-398del	ENSP00000403792.1:n.391-399_391-398del
ENST00000542601.6:c.298_299del	ENSP00000439156.2:p.Ala100ProfsTer?
NM_000095.2:c.397_398del	NP_000086.2:p.Ala133ProfsTer?
NM_000095.3:c.397_398del MANE Select	NP_000086.2:p.Ala133ProfsTer?