Canonical Allele Identifier: CA2583623232

Gene: COMP

Linked Data

• dbSNP Id: rs2145904135
• gnomAD v4: 19-18789247-C-CGGGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18789250_18789254dup , CM000681.2:g.18789250_18789254dup	GRCh38
NC_000019.9:g.18900059_18900063dup , CM000681.1:g.18900059_18900063dup	GRCh37
NC_000019.8:g.18761059_18761063dup	NCBI36
NG_007070.1:g.7054_7058dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.436_440dup MANE Select	ENSP00000222271.2:p.Gly148AlafsTer?
ENST00000222271.6:c.436_440dup	ENSP00000222271.2:p.Gly148AlafsTer?
ENST00000425807.1:c.391-360_391-356dup	ENSP00000403792.1:n.391-360_391-356dup
ENST00000542601.6:c.337_341dup	ENSP00000439156.2:p.Gly115AlafsTer?
NM_000095.2:c.436_440dup	NP_000086.2:p.Gly148AlafsTer?
NM_000095.3:c.436_440dup MANE Select	NP_000086.2:p.Gly148AlafsTer?