Canonical Allele Identifier: CA2576725780

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786057del , CM000681.2:g.18786057del	GRCh38
NC_000019.9:g.18896867del , CM000681.1:g.18896867del	GRCh37
NC_000019.8:g.18757867del	NCBI36
NG_007070.1:g.10248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1397del MANE Select	ENSP00000222271.2:p.Asp466ValfsTer?
ENST00000222271.6:c.1397del	ENSP00000222271.2:p.Asp466ValfsTer?
ENST00000425807.1:c.1238del	ENSP00000403792.1:p.Asp413ValfsTer?
ENST00000542601.6:c.1298del	ENSP00000439156.2:p.Asp433ValfsTer?
NM_000095.2:c.1397del	NP_000086.2:p.Asp466ValfsTer?
NM_000095.3:c.1397del MANE Select	NP_000086.2:p.Asp466ValfsTer?