Canonical Allele Identifier: CA2842543153
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18785755dup , CM000681.2:g.18785755dup GRCh38
NC_000019.9:g.18896565dup , CM000681.1:g.18896565dup GRCh37
NC_000019.8:g.18757565dup NCBI36
NG_007070.1:g.10551dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.1587dup MANE Select ENSP00000222271.2:p.Asp530ArgfsTer15
ENST00000222271.6:c.1587dup ENSP00000222271.2:p.Asp530ArgfsTer15
ENST00000425807.1:c.1428dup ENSP00000403792.1:p.Asp477ArgfsTer15
ENST00000542601.6:c.1488dup ENSP00000439156.2:p.Asp497ArgfsTer15
NM_000095.2:c.1587dup NP_000086.2:p.Asp530ArgfsTer15
NM_000095.3:c.1587dup MANE Select NP_000086.2:p.Asp530ArgfsTer15