Canonical Allele Identifier: CA320803

Gene: MPV17

Linked Data

• ClinVar Variation Id: 214662
• ClinVar RCV Id: RCV000196385 ; RCV000660561 ; RCV003468890
• dbSNP Id: rs777604559
• ExAC: 2:27535911 GT / G
• gnomAD v2: 2-27535911-GT-G
• gnomAD v4: 2-27313044-GT-G
• MyVariant Identifiers: chr2:g.27535912del (hg19) ; chr2:g.27313045del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313046del , CM000664.2:g.27313046del	GRCh38
NC_000002.11:g.27535913del , CM000664.1:g.27535913del	GRCh37
NC_000002.10:g.27389417del	NCBI36
NG_008075.1:g.14520del
NG_033055.1:g.219del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.135del MANE Select	ENSP00000369383.1:p.Glu45AspfsTer8
ENST00000233545.6:c.135del	ENSP00000233545.2:p.Glu45AspfsTer8
ENST00000357186.10:c.19-273del	ENSP00000349713.6:n.19-273del
ENST00000380044.5:c.135del	ENSP00000369383.1:p.Glu45AspfsTer8
ENST00000402310.5:c.135del	ENSP00000383955.1:p.Glu45AspfsTer8
ENST00000402722.5:c.100del	ENSP00000386000.1:p.Thr34HisfsTer?
ENST00000403262.6:c.135del	ENSP00000385671.1:p.Glu45AspfsTer8
ENST00000405076.5:c.135del	ENSP00000385175.1:p.Glu45AspfsTer8
ENST00000405983.5:c.180del	ENSP00000384586.1:p.Glu60AspfsTer8
ENST00000415514.5:c.228-273del	ENSP00000388043.1:n.228-273del
ENST00000426513.6:c.100del	ENSP00000403824.2:p.Thr34HisfsTer?
ENST00000428910.5:c.57del	ENSP00000405235.1:p.Glu19AspfsTer8
ENST00000430991.5:c.65del
ENST00000616446.1:n.112del
ENST00000616707.1:n.343del
ENST00000617583.4:n.161del
ENST00000621183.4:n.191del
ENST00000621470.4:n.151del
ENST00000622003.4:n.308del
NM_002437.4:c.135del	NP_002428.1:p.Glu45AspfsTer8
XM_005264326.2:c.135del	XP_005264383.1:p.Glu45AspfsTer8
XM_005264327.2:c.-25del	XP_005264384.1:n.-25del
XM_006712021.2:c.87del	XP_006712084.1:p.Glu29AspfsTer8
XM_005264326.4:c.135del	XP_005264383.1:p.Glu45AspfsTer8
XM_006712021.3:c.87del	XP_006712084.1:p.Glu29AspfsTer8
XM_017004150.1:c.117del	XP_016859639.1:p.Glu39AspfsTer8
XM_017004151.1:c.87del	XP_016859640.1:p.Glu29AspfsTer8
XM_017004152.1:c.-25del	XP_016859641.1:n.-25del
XM_024452913.1:c.87del	XP_024308681.1:p.Glu29AspfsTer8
NM_002437.5:c.135del MANE Select	NP_002428.1:p.Glu45AspfsTer8