Canonical Allele Identifier: CA343853

Gene: COMP

Linked Data

• ClinVar Variation Id: 40988
• ClinVar RCV Id: RCV000033880 ; RCV000486037 ; RCV001332185
• dbSNP Id: rs193922900
• ExAC: 19:18896844 TGTC / T
• gnomAD v2: 19-18896844-TGTC-T
• gnomAD v4: 19-18786034-TGTC-T
• MyVariant Identifiers: chr19:g.18896845_18896847del (hg19) ; chr19:g.18786035_18786037del (hg38)
• PubMed: PMID:20301660

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18786048_18786050del , CM000681.2:g.18786048_18786050del	GRCh38
NC_000019.9:g.18896858_18896860del , CM000681.1:g.18896858_18896860del	GRCh37
NC_000019.8:g.18757858_18757860del	NCBI36
NG_007070.1:g.10268_10270del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1417_1419del MANE Select	ENSP00000222271.2:p.Asp473del
ENST00000222271.6:c.1417_1419del	ENSP00000222271.2:p.Asp473del
ENST00000425807.1:c.1258_1260del	ENSP00000403792.1:p.Asp420del
ENST00000542601.6:c.1318_1320del	ENSP00000439156.2:p.Asp440del
NM_000095.2:c.1417_1419del	NP_000086.2:p.Asp473del
NM_000095.3:c.1417_1419del MANE Select	NP_000086.2:p.Asp473del