Canonical Allele Identifier: CA632375832
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs2055181530
gnomAD v2: 19-18898726-T-TCTTTC
gnomAD v3: 19-18787917-T-TCTTTC
gnomAD v4: 19-18787917-T-TCTTTC
MyVariant Identifiers: chr19:g.18898726_18898727insCTTTC (hg19) chr19:g.18787917_18787918insCTTTC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787917_18787918insCTTTC , CM000681.2:g.18787917_18787918insCTTTC GRCh38
NC_000019.9:g.18898726_18898727insCTTTC , CM000681.1:g.18898726_18898727insCTTTC GRCh37
NC_000019.8:g.18759726_18759727insCTTTC NCBI36
NG_007070.1:g.8388_8389insGAAAG

Transcript Alleles

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