Canonical Allele Identifier: CA994240436
Gene: COMP HGNC NCBI

Linked Data

dbSNP Id: rs2055153111
gnomAD v3: 19-18784825-GT-G
gnomAD v4: 19-18784825-GT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784826del , CM000681.2:g.18784826del GRCh38
NC_000019.9:g.18895636del , CM000681.1:g.18895636del GRCh37
NC_000019.8:g.18756636del NCBI36
NG_007070.1:g.11479del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1914+70del MANE Select ENSP00000222271.2:n.1914+70del
ENST00000222271.6:c.1914+70del ENSP00000222271.2:n.1914+70del
ENST00000425807.1:c.1755+70del ENSP00000403792.1:n.1755+70del
ENST00000542601.6:c.1815+70del ENSP00000439156.2:n.1815+70del
NM_000095.2:c.1914+70del NP_000086.2:n.1914+70del
NM_000095.3:c.1914+70del MANE Select NP_000086.2:n.1914+70del
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