Canonical Allele Identifier: CA1000854048

Gene: PPT1

Linked Data

• dbSNP Id: rs1648429326

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074070del , CM000663.2:g.40074070del	GRCh38
NC_000001.10:g.40539742del , CM000663.1:g.40539742del	GRCh37
NC_000001.9:g.40312329del	NCBI36
NG_009192.1:g.28402del , LRG_690:g.28402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.910del	ENSP00000394863.4:p.Gly305AspfsTer?
ENST00000439754.6:c.841del	ENSP00000403207.2:p.Gly282AspfsTer?
ENST00000449045.7:c.604del	ENSP00000392293.2:p.Gly203AspfsTer?
ENST00000530076.6:c.256del	ENSP00000434007.1:p.Gly87AspfsTer?
ENST00000530704.6:c.*536del	ENSP00000431655.1:n.*536del
ENST00000641083.1:c.1003del
ENST00000641236.1:n.1150del
ENST00000641319.1:c.*123del	ENSP00000493128.1:n.*123del
ENST00000641381.1:c.335del
ENST00000641471.1:c.1000del	ENSP00000493146.1:p.Gly335AspfsTer?
ENST00000641691.1:c.*765del	ENSP00000492910.1:n.*765del
ENST00000641924.1:c.*342del	ENSP00000493063.1:n.*342del
ENST00000642050.2:c.913del MANE Select	ENSP00000493153.1:p.Gly306AspfsTer?
ENST00000372775.2:n.310del
ENST00000433473.7:c.913del	ENSP00000394863.3:p.Gly306AspfsTer?
ENST00000439754.5:c.526del	ENSP00000403207.1:p.Gly177AspfsTer?
ENST00000449045.6:c.604del	ENSP00000392293.2:p.Gly203AspfsTer?
ENST00000529905.5:c.913del	ENSP00000432053.1:p.Gly306AspfsTer?
ENST00000530076.5:c.256del	ENSP00000434007.1:p.Gly87AspfsTer?
ENST00000530704.5:c.*536del	ENSP00000431655.1:n.*536del
NM_000310.3:c.913del , LRG_690t1:c.913del	NP_000301.1:p.Gly306AspfsTer?
NM_001142604.1:c.604del	NP_001136076.1:p.Gly203AspfsTer?
XM_005271008.1:c.841del	XP_005271065.1:p.Gly282AspfsTer?
NM_001363695.1:c.841del	NP_001350624.1:p.Gly282AspfsTer?
NM_000310.4:c.913del MANE Select	NP_000301.1:p.Gly306AspfsTer?
NM_001142604.2:c.604del	NP_001136076.1:p.Gly203AspfsTer?
NM_001363695.2:c.841del	NP_001350624.1:p.Gly282AspfsTer?