Canonical Allele Identifier: CA632375826
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1568555858
gnomAD v2: 19-18898723-C-CCTTTT
gnomAD v3: 19-18787914-C-CCTTTT
gnomAD v4: 19-18787914-C-CCTTTT
MyVariant Identifiers: chr19:g.18898724_18898726delinsCTTTTTTT (hg19) chr19:g.18787915_18787917delinsCTTTTTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787914_18787915insCTTTT , CM000681.2:g.18787914_18787915insCTTTT GRCh38
NC_000019.9:g.18898723_18898724insCTTTT , CM000681.1:g.18898723_18898724insCTTTT GRCh37
NC_000019.8:g.18759723_18759724insCTTTT NCBI36
NG_007070.1:g.8391_8392insAAAAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-265_976-264insAAAAG MANE Select ENSP00000222271.2:n.976-265_976-264insAAAAG
ENST00000222271.6:c.976-265_976-264insAAAAG ENSP00000222271.2:n.976-265_976-264insAAAAG
ENST00000425807.1:c.817-265_817-264insAAAAG ENSP00000403792.1:n.817-265_817-264insAAAAG
ENST00000542601.6:c.877-265_877-264insAAAAG ENSP00000439156.2:n.877-265_877-264insAAAAG
NM_000095.2:c.976-265_976-264insAAAAG NP_000086.2:n.976-265_976-264insAAAAG
NM_000095.3:c.976-265_976-264insAAAAG MANE Select NP_000086.2:n.976-265_976-264insAAAAG
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