Canonical Allele Identifier: CA632375830

Gene: COMP

Linked Data

• dbSNP Id: rs2055181530
• gnomAD v2: 19-18898726-T-TC
• gnomAD v3: 19-18787917-T-TC
• gnomAD v4: 19-18787917-T-TC
• MyVariant Identifiers: chr19:g.18898726_18898727insC (hg19) ; chr19:g.18787917_18787918insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18787917_18787918insC , CM000681.2:g.18787917_18787918insC	GRCh38
NC_000019.9:g.18898726_18898727insC , CM000681.1:g.18898726_18898727insC	GRCh37
NC_000019.8:g.18759726_18759727insC	NCBI36
NG_007070.1:g.8388_8389insG

Transcript Alleles

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