Canonical Allele Identifier: CA2645090645

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074243-T-TAATCTC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074245_40074246insTCTCAA , CM000663.2:g.40074245_40074246insTCTCAA	GRCh38
NC_000001.10:g.40539917_40539918insTCTCAA , CM000663.1:g.40539917_40539918insTCTCAA	GRCh37
NC_000001.9:g.40312504_40312505insTCTCAA	NCBI36
NG_009192.1:g.28227_28228insGAGATT , LRG_690:g.28227_28228insGAGATT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-61_796-60insGAGATT	ENSP00000394863.4:n.796-61_796-60insGAGATT
ENST00000439754.6:c.727-61_727-60insGAGATT	ENSP00000403207.2:n.727-61_727-60insGAGATT
ENST00000449045.7:c.490-61_490-60insGAGATT	ENSP00000392293.2:n.490-61_490-60insGAGATT
ENST00000527311.7:c.568-61_568-60insGAGATT	ENSP00000436695.3:n.568-61_568-60insGAGATT
ENST00000530076.6:c.142-61_142-60insGAGATT	ENSP00000434007.1:n.142-61_142-60insGAGATT
ENST00000530704.6:c.*422-61_*422-60insGAGATT	ENSP00000431655.1:n.*422-61_*422-60insGAGATT
ENST00000641083.1:c.889-61_889-60insGAGATT
ENST00000641236.1:n.1036-61_1036-60insGAGATT
ENST00000641319.1:c.*9-61_*9-60insGAGATT	ENSP00000493128.1:n.*9-61_*9-60insGAGATT
ENST00000641381.1:c.221-61_221-60insGAGATT
ENST00000641471.1:c.886-61_886-60insGAGATT	ENSP00000493146.1:n.886-61_886-60insGAGATT
ENST00000641691.1:c.*651-61_*651-60insGAGATT	ENSP00000492910.1:n.*651-61_*651-60insGAGATT
ENST00000641924.1:c.*228-61_*228-60insGAGATT	ENSP00000493063.1:n.*228-61_*228-60insGAGATT
ENST00000642050.2:c.799-61_799-60insGAGATT MANE Select	ENSP00000493153.1:n.799-61_799-60insGAGATT
ENST00000372775.2:n.196-61_196-60insGAGATT
ENST00000433473.7:c.799-61_799-60insGAGATT	ENSP00000394863.3:n.799-61_799-60insGAGATT
ENST00000439754.5:c.412-61_412-60insGAGATT	ENSP00000403207.1:n.412-61_412-60insGAGATT
ENST00000449045.6:c.490-61_490-60insGAGATT	ENSP00000392293.2:n.490-61_490-60insGAGATT
ENST00000527311.6:c.574-61_574-60insGAGATT	ENSP00000436695.2:n.574-61_574-60insGAGATT
ENST00000529905.5:c.799-61_799-60insGAGATT	ENSP00000432053.1:n.799-61_799-60insGAGATT
ENST00000530076.5:c.142-61_142-60insGAGATT	ENSP00000434007.1:n.142-61_142-60insGAGATT
ENST00000530704.5:c.*422-61_*422-60insGAGATT	ENSP00000431655.1:n.*422-61_*422-60insGAGATT
NM_000310.3:c.799-61_799-60insGAGATT , LRG_690t1:c.799-61_799-60insGAGATT	NP_000301.1:n.799-61_799-60insGAGATT
NM_001142604.1:c.490-61_490-60insGAGATT	NP_001136076.1:n.490-61_490-60insGAGATT
XM_005271008.1:c.727-61_727-60insGAGATT	XP_005271065.1:n.727-61_727-60insGAGATT
NM_001363695.1:c.727-61_727-60insGAGATT	NP_001350624.1:n.727-61_727-60insGAGATT
NM_000310.4:c.799-61_799-60insGAGATT MANE Select	NP_000301.1:n.799-61_799-60insGAGATT
NM_001142604.2:c.490-61_490-60insGAGATT	NP_001136076.1:n.490-61_490-60insGAGATT
NM_001363695.2:c.727-61_727-60insGAGATT	NP_001350624.1:n.727-61_727-60insGAGATT