Canonical Allele Identifier: CA2838921510

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785802del , CM000681.2:g.18785802del	GRCh38
NC_000019.9:g.18896612del , CM000681.1:g.18896612del	GRCh37
NC_000019.8:g.18757612del	NCBI36
NG_007070.1:g.10504del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1540del MANE Select	ENSP00000222271.2:p.Val514Ter
ENST00000222271.6:c.1540del	ENSP00000222271.2:p.Val514Ter
ENST00000425807.1:c.1381del	ENSP00000403792.1:p.Val461Ter
ENST00000542601.6:c.1441del	ENSP00000439156.2:p.Val481Ter
NM_000095.2:c.1540del	NP_000086.2:p.Val514Ter
NM_000095.3:c.1540del MANE Select	NP_000086.2:p.Val514Ter