Canonical Allele Identifier: CA994237892
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs2055180677
gnomAD v3: 19-18787887-T-TTTCC
gnomAD v4: 19-18787887-T-TTTCC
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787890_18787891insCTTC , CM000681.2:g.18787890_18787891insCTTC GRCh38
NC_000019.9:g.18898699_18898700insCTTC , CM000681.1:g.18898699_18898700insCTTC GRCh37
NC_000019.8:g.18759699_18759700insCTTC NCBI36
NG_007070.1:g.8418_8419insGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-238_976-237insGGAA MANE Select ENSP00000222271.2:n.976-238_976-237insGGAA
ENST00000222271.6:c.976-238_976-237insGGAA ENSP00000222271.2:n.976-238_976-237insGGAA
ENST00000425807.1:c.817-238_817-237insGGAA ENSP00000403792.1:n.817-238_817-237insGGAA
ENST00000542601.6:c.877-238_877-237insGGAA ENSP00000439156.2:n.877-238_877-237insGGAA
NM_000095.2:c.976-238_976-237insGGAA NP_000086.2:n.976-238_976-237insGGAA
NM_000095.3:c.976-238_976-237insGGAA MANE Select NP_000086.2:n.976-238_976-237insGGAA
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