Canonical Allele Identifier: CA632375834

Gene: COMP

Linked Data

• dbSNP Id: rs2055181530
• gnomAD v2: 19-18898726-T-TCTTTCTTTCTTTC
• gnomAD v3: 19-18787917-T-TCTTTCTTTCTTTC
• gnomAD v4: 19-18787917-T-TCTTTCTTTCTTTC
• MyVariant Identifiers: chr19:g.18898726_18898727insCTTTCTTTCTTTC (hg19) ; chr19:g.18787917_18787918insCTTTCTTTCTTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787917_18787918insCTTTCTTTCTTTC , CM000681.2:g.18787917_18787918insCTTTCTTTCTTTC	GRCh38
NC_000019.9:g.18898726_18898727insCTTTCTTTCTTTC , CM000681.1:g.18898726_18898727insCTTTCTTTCTTTC	GRCh37
NC_000019.8:g.18759726_18759727insCTTTCTTTCTTTC	NCBI36
NG_007070.1:g.8388_8389insGAAAGAAAGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.976-268_976-267insGAAAGAAAGAAAG MANE Select	ENSP00000222271.2:n.976-268_976-267insGAAAGAAAGAAAG
ENST00000222271.6:c.976-268_976-267insGAAAGAAAGAAAG	ENSP00000222271.2:n.976-268_976-267insGAAAGAAAGAAAG
ENST00000425807.1:c.817-268_817-267insGAAAGAAAGAAAG	ENSP00000403792.1:n.817-268_817-267insGAAAGAAAGAAAG
ENST00000542601.6:c.877-268_877-267insGAAAGAAAGAAAG	ENSP00000439156.2:n.877-268_877-267insGAAAGAAAGAAAG
NM_000095.2:c.976-268_976-267insGAAAGAAAGAAAG	NP_000086.2:n.976-268_976-267insGAAAGAAAGAAAG
NM_000095.3:c.976-268_976-267insGAAAGAAAGAAAG MANE Select	NP_000086.2:n.976-268_976-267insGAAAGAAAGAAAG