Canonical Allele Identifier: CA2583621573
Gene: COMP HGNC NCBI

Linked Data

gnomAD v4: 19-18784931-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18784935del , CM000681.2:g.18784935del GRCh38
NC_000019.9:g.18895745del , CM000681.1:g.18895745del GRCh37
NC_000019.8:g.18756745del NCBI36
NG_007070.1:g.11373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1878del MANE Select ENSP00000222271.2:p.Phe627SerfsTer14
ENST00000222271.6:c.1878del ENSP00000222271.2:p.Phe627SerfsTer14
ENST00000425807.1:c.1719del ENSP00000403792.1:p.Phe574SerfsTer14
ENST00000542601.6:c.1779del ENSP00000439156.2:p.Phe594SerfsTer14
NM_000095.2:c.1878del NP_000086.2:p.Phe627SerfsTer14
NM_000095.3:c.1878del MANE Select NP_000086.2:p.Phe627SerfsTer14
Search 100 bp 5'
Search 100 bp 3'