Canonical Allele Identifier: CA2582001305
Gene: COMP HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787634del , CM000681.2:g.18787634del GRCh38
NC_000019.9:g.18898443del , CM000681.1:g.18898443del GRCh37
NC_000019.8:g.18759443del NCBI36
NG_007070.1:g.8672del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.992del MANE Select ENSP00000222271.2:p.Val331GlyfsTer?
ENST00000222271.6:c.992del ENSP00000222271.2:p.Val331GlyfsTer?
ENST00000425807.1:c.833del ENSP00000403792.1:p.Val278GlyfsTer?
ENST00000542601.6:c.893del ENSP00000439156.2:p.Val298GlyfsTer?
NM_000095.2:c.992del NP_000086.2:p.Val331GlyfsTer?
NM_000095.3:c.992del MANE Select NP_000086.2:p.Val331GlyfsTer?