Canonical Allele Identifier: CA1164251571

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091506_40091508delinsCAG , CM000663.2:g.40091506_40091508delinsCAG	GRCh38
NC_000001.10:g.40557178_40557180delinsCAG , CM000663.1:g.40557178_40557180delinsCAG	GRCh37
NC_000001.9:g.40329765_40329767delinsCAG	NCBI36
NG_009192.1:g.10963_10965delinsCTG , LRG_690:g.10963_10965delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-109_*199-107delinsCTG	ENSP00000361865.5:n.*199-109_*199-107delinsCTG
ENST00000433473.8:c.360-109_360-107delinsCTG	ENSP00000394863.4:n.360-109_360-107delinsCTG
ENST00000439754.6:c.363-109_363-107delinsCTG	ENSP00000403207.2:n.363-109_363-107delinsCTG
ENST00000449045.7:c.125-1996_125-1994delinsCTG	ENSP00000392293.2:n.125-1996_125-1994delinsCTG
ENST00000526547.2:c.643-109_643-107delinsCTG
ENST00000527311.7:c.235-109_235-107delinsCTG	ENSP00000436695.3:n.235-109_235-107delinsCTG
ENST00000530704.6:c.363-109_363-107delinsCTG	ENSP00000431655.1:n.363-109_363-107delinsCTG
ENST00000641083.1:c.341-109_341-107delinsCTG
ENST00000641236.1:n.600-109_600-107delinsCTG
ENST00000641319.1:c.363-109_363-107delinsCTG	ENSP00000493128.1:n.363-109_363-107delinsCTG
ENST00000641471.1:c.450-109_450-107delinsCTG	ENSP00000493146.1:n.450-109_450-107delinsCTG
ENST00000641548.1:c.*215-109_*215-107delinsCTG	ENSP00000492984.1:n.*215-109_*215-107delinsCTG
ENST00000641691.1:c.*215-109_*215-107delinsCTG	ENSP00000492910.1:n.*215-109_*215-107delinsCTG
ENST00000641924.1:c.124+5607_124+5609delinsCTG	ENSP00000493063.1:n.124+5607_124+5609delinsCTG
ENST00000642050.2:c.363-109_363-107delinsCTG MANE Select	ENSP00000493153.1:n.363-109_363-107delinsCTG
ENST00000372779.8:c.450-109_450-107delinsCTG	ENSP00000361865.4:n.450-109_450-107delinsCTG
ENST00000433473.7:c.363-109_363-107delinsCTG	ENSP00000394863.3:n.363-109_363-107delinsCTG
ENST00000439754.5:c.48-109_48-107delinsCTG	ENSP00000403207.1:n.48-109_48-107delinsCTG
ENST00000449045.6:c.125-1996_125-1994delinsCTG	ENSP00000392293.2:n.125-1996_125-1994delinsCTG
ENST00000526547.1:c.213-109_213-107delinsCTG	ENSP00000436481.1:n.213-109_213-107delinsCTG
ENST00000527311.6:c.138-109_138-107delinsCTG	ENSP00000436695.2:n.138-109_138-107delinsCTG
ENST00000529905.5:c.363-109_363-107delinsCTG	ENSP00000432053.1:n.363-109_363-107delinsCTG
ENST00000530704.5:c.363-109_363-107delinsCTG	ENSP00000431655.1:n.363-109_363-107delinsCTG
NM_000310.3:c.363-109_363-107delinsCTG , LRG_690t1:c.363-109_363-107delinsCTG	NP_000301.1:n.363-109_363-107delinsCTG
NM_001142604.1:c.125-1996_125-1994delinsCTG	NP_001136076.1:n.125-1996_125-1994delinsCTG
XM_005271008.1:c.363-109_363-107delinsCTG	XP_005271065.1:n.363-109_363-107delinsCTG
NM_001363695.1:c.363-109_363-107delinsCTG	NP_001350624.1:n.363-109_363-107delinsCTG
NM_000310.4:c.363-109_363-107delinsCTG MANE Select	NP_000301.1:n.363-109_363-107delinsCTG
NM_001142604.2:c.125-1996_125-1994delinsCTG	NP_001136076.1:n.125-1996_125-1994delinsCTG
NM_001363695.2:c.363-109_363-107delinsCTG	NP_001350624.1:n.363-109_363-107delinsCTG