Canonical Allele Identifier: CA915952950

Gene: COMP

Linked Data

• ClinVar Variation Id: 807399
• ClinVar RCV Id: RCV000995525 ; RCV001597240
• dbSNP Id: rs1601053887

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786085_18786087del , CM000681.2:g.18786085_18786087del	GRCh38
NC_000019.9:g.18896895_18896897del , CM000681.1:g.18896895_18896897del	GRCh37
NC_000019.8:g.18757895_18757897del	NCBI36
NG_007070.1:g.10222_10224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1371_1373del MANE Select	ENSP00000222271.2:p.Glu457del
ENST00000222271.6:c.1371_1373del	ENSP00000222271.2:p.Glu457del
ENST00000425807.1:c.1212_1214del	ENSP00000403792.1:p.Glu404del
ENST00000542601.6:c.1272_1274del	ENSP00000439156.2:p.Glu424del
NM_000095.2:c.1371_1373del	NP_000086.2:p.Glu457del
NM_000095.3:c.1371_1373del MANE Select	NP_000086.2:p.Glu457del