Canonical Allele Identifier: CA2574453141

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074127del , CM000663.2:g.40074127del	GRCh38
NC_000001.10:g.40539799del , CM000663.1:g.40539799del	GRCh37
NC_000001.9:g.40312386del	NCBI36
NG_009192.1:g.28344del , LRG_690:g.28344del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.852del	ENSP00000394863.4:p.Glu285LysfsTer?
ENST00000439754.6:c.783del	ENSP00000403207.2:p.Glu262LysfsTer?
ENST00000449045.7:c.546del	ENSP00000392293.2:p.Glu183LysfsTer?
ENST00000527311.7:c.624del	ENSP00000436695.3:p.Thr208=
ENST00000530076.6:c.198del	ENSP00000434007.1:p.Glu67LysfsTer?
ENST00000530704.6:c.*478del	ENSP00000431655.1:n.*478del
ENST00000641083.1:c.945del
ENST00000641236.1:n.1092del
ENST00000641319.1:c.*65del	ENSP00000493128.1:n.*65del
ENST00000641381.1:c.277del
ENST00000641471.1:c.942del	ENSP00000493146.1:p.Glu315LysfsTer?
ENST00000641691.1:c.*707del	ENSP00000492910.1:n.*707del
ENST00000641924.1:c.*284del	ENSP00000493063.1:n.*284del
ENST00000642050.2:c.855del MANE Select	ENSP00000493153.1:p.Glu286LysfsTer?
ENST00000372775.2:n.252del
ENST00000433473.7:c.855del	ENSP00000394863.3:p.Glu286LysfsTer?
ENST00000439754.5:c.468del	ENSP00000403207.1:p.Glu157LysfsTer?
ENST00000449045.6:c.546del	ENSP00000392293.2:p.Glu183LysfsTer?
ENST00000529905.5:c.855del	ENSP00000432053.1:p.Glu286LysfsTer?
ENST00000530076.5:c.198del	ENSP00000434007.1:p.Glu67LysfsTer?
ENST00000530704.5:c.*478del	ENSP00000431655.1:n.*478del
NM_000310.3:c.855del , LRG_690t1:c.855del	NP_000301.1:p.Glu286LysfsTer?
NM_001142604.1:c.546del	NP_001136076.1:p.Glu183LysfsTer?
XM_005271008.1:c.783del	XP_005271065.1:p.Glu262LysfsTer?
NM_001363695.1:c.783del	NP_001350624.1:p.Glu262LysfsTer?
NM_000310.4:c.855del MANE Select	NP_000301.1:p.Glu286LysfsTer?
NM_001142604.2:c.546del	NP_001136076.1:p.Glu183LysfsTer?
NM_001363695.2:c.783del	NP_001350624.1:p.Glu262LysfsTer?