Canonical Allele Identifier: CA506053422

Gene: COMP

Linked Data

• gnomAD v4: 19-18789272-CG-C
• COSMIC: COSM1391737
• MyVariant Identifiers: chr19:g.18900082del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789277del , CM000681.2:g.18789277del	GRCh38
NC_000019.9:g.18900086del , CM000681.1:g.18900086del	GRCh37
NC_000019.8:g.18761086del	NCBI36
NG_007070.1:g.7033del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.415del MANE Select	ENSP00000222271.2:p.Arg139GlufsTer?
ENST00000222271.6:c.415del	ENSP00000222271.2:p.Arg139GlufsTer?
ENST00000425807.1:c.391-381del	ENSP00000403792.1:n.391-381del
ENST00000542601.6:c.316del	ENSP00000439156.2:p.Arg106GlufsTer?
NM_000095.2:c.415del	NP_000086.2:p.Arg139GlufsTer?
NM_000095.3:c.415del MANE Select	NP_000086.2:p.Arg139GlufsTer?