Canonical Allele Identifier: CA2842543151

Gene: COMP

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785697del , CM000681.2:g.18785697del	GRCh38
NC_000019.9:g.18896507del , CM000681.1:g.18896507del	GRCh37
NC_000019.8:g.18757507del	NCBI36
NG_007070.1:g.10611del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1647del MANE Select	ENSP00000222271.2:p.Asn550ThrfsTer15
ENST00000222271.6:c.1647del	ENSP00000222271.2:p.Asn550ThrfsTer15
ENST00000425807.1:c.1488del	ENSP00000403792.1:p.Asn497ThrfsTer15
ENST00000542601.6:c.1548del	ENSP00000439156.2:p.Asn517ThrfsTer15
NM_000095.2:c.1647del	NP_000086.2:p.Asn550ThrfsTer15
NM_000095.3:c.1647del MANE Select	NP_000086.2:p.Asn550ThrfsTer15