Canonical Allele Identifier: CA2583621575
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18784949-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784950del , CM000681.2:g.18784950del GRCh38
NC_000019.9:g.18895760del , CM000681.1:g.18895760del GRCh37
NC_000019.8:g.18756760del NCBI36
NG_007070.1:g.11355del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1860del MANE Select ENSP00000222271.2:p.Tyr621IlefsTer20
ENST00000222271.6:c.1860del ENSP00000222271.2:p.Tyr621IlefsTer20
ENST00000425807.1:c.1701del ENSP00000403792.1:p.Tyr568IlefsTer20
ENST00000542601.6:c.1761del ENSP00000439156.2:p.Tyr588IlefsTer20
NM_000095.2:c.1860del NP_000086.2:p.Tyr621IlefsTer20
NM_000095.3:c.1860del MANE Select NP_000086.2:p.Tyr621IlefsTer20
Search 100 bp 5'
Search 100 bp 3'