Canonical Allele Identifier: CA994237342
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs2055177495
gnomAD v3: 19-18787681-CAGGTCGAGA-C
gnomAD v4: 19-18787681-CAGGTCGAGA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787685_18787693del , CM000681.2:g.18787685_18787693del GRCh38
NC_000019.9:g.18898494_18898502del , CM000681.1:g.18898494_18898502del GRCh37
NC_000019.8:g.18759494_18759502del NCBI36
NG_007070.1:g.8616_8624del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.976-40_976-32del MANE Select ENSP00000222271.2:n.976-40_976-32del
ENST00000222271.6:c.976-40_976-32del ENSP00000222271.2:n.976-40_976-32del
ENST00000425807.1:c.817-40_817-32del ENSP00000403792.1:n.817-40_817-32del
ENST00000542601.6:c.877-40_877-32del ENSP00000439156.2:n.877-40_877-32del
NM_000095.2:c.976-40_976-32del NP_000086.2:n.976-40_976-32del
NM_000095.3:c.976-40_976-32del MANE Select NP_000086.2:n.976-40_976-32del
Search 100 bp 5'
Search 100 bp 3'