Canonical Allele Identifier: CA2695228427

Gene: COMP

Linked Data

• ClinVar Variation Id: 2736855
• ClinVar RCV Id: RCV003560100

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786032_18786037dup , CM000681.2:g.18786032_18786037dup	GRCh38
NC_000019.9:g.18896842_18896847dup , CM000681.1:g.18896842_18896847dup	GRCh37
NC_000019.8:g.18757842_18757847dup	NCBI36
NG_007070.1:g.10271_10276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1420_1425dup MANE Select	ENSP00000222271.2:p.Asp475_Gly476insAsnAsp
ENST00000222271.6:c.1420_1425dup	ENSP00000222271.2:p.Asp475_Gly476insAsnAsp
ENST00000425807.1:c.1261_1266dup	ENSP00000403792.1:p.Asp422_Gly423insAsnAsp
ENST00000542601.6:c.1321_1326dup	ENSP00000439156.2:p.Asp442_Gly443insAsnAsp
NM_000095.2:c.1420_1425dup	NP_000086.2:p.Asp475_Gly476insAsnAsp
NM_000095.3:c.1420_1425dup MANE Select	NP_000086.2:p.Asp475_Gly476insAsnAsp