Canonical Allele Identifier: CA2695198002

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2678043
• ClinVar RCV Id: RCV003472520

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074098del , CM000663.2:g.40074098del	GRCh38
NC_000001.10:g.40539770del , CM000663.1:g.40539770del	GRCh37
NC_000001.9:g.40312357del	NCBI36
NG_009192.1:g.28374del , LRG_690:g.28374del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.882del	ENSP00000394863.4:p.Glu294AspfsTer?
ENST00000439754.6:c.813del	ENSP00000403207.2:p.Glu271AspfsTer?
ENST00000449045.7:c.576del	ENSP00000392293.2:p.Glu192AspfsTer?
ENST00000530076.6:c.228del	ENSP00000434007.1:p.Glu76AspfsTer?
ENST00000530704.6:c.*508del	ENSP00000431655.1:n.*508del
ENST00000641083.1:c.975del
ENST00000641236.1:n.1122del
ENST00000641319.1:c.*95del	ENSP00000493128.1:n.*95del
ENST00000641381.1:c.307del
ENST00000641471.1:c.972del	ENSP00000493146.1:p.Glu324AspfsTer?
ENST00000641691.1:c.*737del	ENSP00000492910.1:n.*737del
ENST00000641924.1:c.*314del	ENSP00000493063.1:n.*314del
ENST00000642050.2:c.885del MANE Select	ENSP00000493153.1:p.Glu295AspfsTer?
ENST00000372775.2:n.282del
ENST00000433473.7:c.885del	ENSP00000394863.3:p.Glu295AspfsTer?
ENST00000439754.5:c.498del	ENSP00000403207.1:p.Glu166AspfsTer?
ENST00000449045.6:c.576del	ENSP00000392293.2:p.Glu192AspfsTer?
ENST00000529905.5:c.885del	ENSP00000432053.1:p.Glu295AspfsTer?
ENST00000530076.5:c.228del	ENSP00000434007.1:p.Glu76AspfsTer?
ENST00000530704.5:c.*508del	ENSP00000431655.1:n.*508del
NM_000310.3:c.885del , LRG_690t1:c.885del	NP_000301.1:p.Glu295AspfsTer?
NM_001142604.1:c.576del	NP_001136076.1:p.Glu192AspfsTer?
XM_005271008.1:c.813del	XP_005271065.1:p.Glu271AspfsTer?
NM_001363695.1:c.813del	NP_001350624.1:p.Glu271AspfsTer?
NM_000310.4:c.885del MANE Select	NP_000301.1:p.Glu295AspfsTer?
NM_001142604.2:c.576del	NP_001136076.1:p.Glu192AspfsTer?
NM_001363695.2:c.813del	NP_001350624.1:p.Glu271AspfsTer?