Canonical Allele Identifier: CA9316412

Gene: COMP

Linked Data

• ClinVar Variation Id: 2994403
• ClinVar RCV Id: RCV003856042
• dbSNP Id: rs770721341
• ExAC: 19:18896782 GTCC / G
• gnomAD v2: 19-18896782-GTCC-G
• gnomAD v3: 19-18785972-GTCC-G
• gnomAD v4: 19-18785972-GTCC-G
• MyVariant Identifiers: chr19:g.18896783_18896785del (hg19) ; chr19:g.18785973_18785975del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.18785977_18785979del , CM000681.2:g.18785977_18785979del	GRCh38
NC_000019.9:g.18896787_18896789del , CM000681.1:g.18896787_18896789del	GRCh37
NC_000019.8:g.18757787_18757789del	NCBI36
NG_007070.1:g.10330_10332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000222271.7:c.1479_1481del MANE Select	ENSP00000222271.2:p.Glu493del
ENST00000222271.6:c.1479_1481del	ENSP00000222271.2:p.Glu493del
ENST00000425807.1:c.1320_1322del	ENSP00000403792.1:p.Glu440del
ENST00000542601.6:c.1380_1382del	ENSP00000439156.2:p.Glu460del
NM_000095.2:c.1479_1481del	NP_000086.2:p.Glu493del
NM_000095.3:c.1479_1481del MANE Select	NP_000086.2:p.Glu493del