Canonical Allele Identifier: CA632375824
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs1568555862
gnomAD v2: 19-18898723-C-CTTTCT
gnomAD v3: 19-18787914-C-CTTTCT
gnomAD v4: 19-18787914-C-CTTTCT
MyVariant Identifiers: chr19:g.18898726_18898727insCTTTT (hg19) chr19:g.18787917_18787918insCTTTT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787917_18787918insCTTTT , CM000681.2:g.18787917_18787918insCTTTT GRCh38
NC_000019.9:g.18898726_18898727insCTTTT , CM000681.1:g.18898726_18898727insCTTTT GRCh37
NC_000019.8:g.18759726_18759727insCTTTT NCBI36
NG_007070.1:g.8391_8392insAGAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-265_976-264insAGAAA MANE Select ENSP00000222271.2:n.976-265_976-264insAGAAA
ENST00000222271.6:c.976-265_976-264insAGAAA ENSP00000222271.2:n.976-265_976-264insAGAAA
ENST00000425807.1:c.817-265_817-264insAGAAA ENSP00000403792.1:n.817-265_817-264insAGAAA
ENST00000542601.6:c.877-265_877-264insAGAAA ENSP00000439156.2:n.877-265_877-264insAGAAA
NM_000095.2:c.976-265_976-264insAGAAA NP_000086.2:n.976-265_976-264insAGAAA
NM_000095.3:c.976-265_976-264insAGAAA MANE Select NP_000086.2:n.976-265_976-264insAGAAA
Search 100 bp 5'
Search 100 bp 3'