Canonical Allele Identifier: CA994237959

Gene: COMP

Linked Data

• dbSNP Id: rs2055180980
• gnomAD v3: 19-18787899-T-TTTCC
• gnomAD v4: 19-18787899-T-TTTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787902_18787903insCTTC , CM000681.2:g.18787902_18787903insCTTC	GRCh38
NC_000019.9:g.18898711_18898712insCTTC , CM000681.1:g.18898711_18898712insCTTC	GRCh37
NC_000019.8:g.18759711_18759712insCTTC	NCBI36
NG_007070.1:g.8406_8407insGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-250_976-249insGGAA MANE Select	ENSP00000222271.2:n.976-250_976-249insGGAA
ENST00000222271.6:c.976-250_976-249insGGAA	ENSP00000222271.2:n.976-250_976-249insGGAA
ENST00000425807.1:c.817-250_817-249insGGAA	ENSP00000403792.1:n.817-250_817-249insGGAA
ENST00000542601.6:c.877-250_877-249insGGAA	ENSP00000439156.2:n.877-250_877-249insGGAA
NM_000095.2:c.976-250_976-249insGGAA	NP_000086.2:n.976-250_976-249insGGAA
NM_000095.3:c.976-250_976-249insGGAA MANE Select	NP_000086.2:n.976-250_976-249insGGAA