Canonical Allele Identifier: CA2695228443
Gene: COMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.18787640_18787643del , CM000681.2:g.18787640_18787643del GRCh38
NC_000019.9:g.18898449_18898452del , CM000681.1:g.18898449_18898452del GRCh37
NC_000019.8:g.18759449_18759452del NCBI36
NG_007070.1:g.8665_8668del

Transcript Alleles

HGVS Amino-acid Change
ENST00000222271.7:c.985_988del MANE Select ENSP00000222271.2:p.Pro329TrpfsTer?
ENST00000222271.6:c.985_988del ENSP00000222271.2:p.Pro329TrpfsTer?
ENST00000425807.1:c.826_829del ENSP00000403792.1:p.Pro276TrpfsTer?
ENST00000542601.6:c.886_889del ENSP00000439156.2:p.Pro296TrpfsTer?
NM_000095.2:c.985_988del NP_000086.2:p.Pro329TrpfsTer?
NM_000095.3:c.985_988del MANE Select NP_000086.2:p.Pro329TrpfsTer?