Canonical Allele Identifier: CA9316563
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs755529965
ExAC: 19:18898487 G / GA
gnomAD v2: 19-18898487-G-GA
gnomAD v3: 19-18787678-G-GA
gnomAD v4: 19-18787678-G-GA
MyVariant Identifiers: chr19:g.18898487_18898488insA (hg19) chr19:g.18787678_18787679insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787679dup , CM000681.2:g.18787679dup GRCh38
NC_000019.9:g.18898488dup , CM000681.1:g.18898488dup GRCh37
NC_000019.8:g.18759488dup NCBI36
NG_007070.1:g.8627dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-29dup MANE Select ENSP00000222271.2:n.976-29dup
ENST00000222271.6:c.976-29dup ENSP00000222271.2:n.976-29dup
ENST00000425807.1:c.817-29dup ENSP00000403792.1:n.817-29dup
ENST00000542601.6:c.877-29dup ENSP00000439156.2:n.877-29dup
NM_000095.2:c.976-29dup NP_000086.2:n.976-29dup
NM_000095.3:c.976-29dup MANE Select NP_000086.2:n.976-29dup
Search 100 bp 5'
Search 100 bp 3'