Canonical Allele Identifier: CA1164251686

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091688_40091689delinsAC , CM000663.2:g.40091688_40091689delinsAC	GRCh38
NC_000001.10:g.40557360_40557361delinsAC , CM000663.1:g.40557360_40557361delinsAC	GRCh37
NC_000001.9:g.40329947_40329948delinsAC	NCBI36
NG_009192.1:g.10782_10783delinsGT , LRG_690:g.10782_10783delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-290_*199-289delinsGT	ENSP00000361865.5:n.*199-290_*199-289delinsGT
ENST00000433473.8:c.360-290_360-289delinsGT	ENSP00000394863.4:n.360-290_360-289delinsGT
ENST00000439754.6:c.363-290_363-289delinsGT	ENSP00000403207.2:n.363-290_363-289delinsGT
ENST00000449045.7:c.125-2177_125-2176delinsGT	ENSP00000392293.2:n.125-2177_125-2176delinsGT
ENST00000526547.2:c.643-290_643-289delinsGT
ENST00000527311.7:c.235-290_235-289delinsGT	ENSP00000436695.3:n.235-290_235-289delinsGT
ENST00000530704.6:c.363-290_363-289delinsGT	ENSP00000431655.1:n.363-290_363-289delinsGT
ENST00000641083.1:c.341-290_341-289delinsGT
ENST00000641236.1:n.600-290_600-289delinsGT
ENST00000641319.1:c.363-290_363-289delinsGT	ENSP00000493128.1:n.363-290_363-289delinsGT
ENST00000641471.1:c.450-290_450-289delinsGT	ENSP00000493146.1:n.450-290_450-289delinsGT
ENST00000641548.1:c.*215-290_*215-289delinsGT	ENSP00000492984.1:n.*215-290_*215-289delinsGT
ENST00000641691.1:c.*215-290_*215-289delinsGT	ENSP00000492910.1:n.*215-290_*215-289delinsGT
ENST00000641924.1:c.124+5426_124+5427delinsGT	ENSP00000493063.1:n.124+5426_124+5427delinsGT
ENST00000642050.2:c.363-290_363-289delinsGT MANE Select	ENSP00000493153.1:n.363-290_363-289delinsGT
ENST00000372779.8:c.450-290_450-289delinsGT	ENSP00000361865.4:n.450-290_450-289delinsGT
ENST00000433473.7:c.363-290_363-289delinsGT	ENSP00000394863.3:n.363-290_363-289delinsGT
ENST00000439754.5:c.48-290_48-289delinsGT	ENSP00000403207.1:n.48-290_48-289delinsGT
ENST00000449045.6:c.125-2177_125-2176delinsGT	ENSP00000392293.2:n.125-2177_125-2176delinsGT
ENST00000526547.1:c.213-290_213-289delinsGT	ENSP00000436481.1:n.213-290_213-289delinsGT
ENST00000527311.6:c.138-290_138-289delinsGT	ENSP00000436695.2:n.138-290_138-289delinsGT
ENST00000529905.5:c.363-290_363-289delinsGT	ENSP00000432053.1:n.363-290_363-289delinsGT
ENST00000530704.5:c.363-290_363-289delinsGT	ENSP00000431655.1:n.363-290_363-289delinsGT
NM_000310.3:c.363-290_363-289delinsGT , LRG_690t1:c.363-290_363-289delinsGT	NP_000301.1:n.363-290_363-289delinsGT
NM_001142604.1:c.125-2177_125-2176delinsGT	NP_001136076.1:n.125-2177_125-2176delinsGT
XM_005271008.1:c.363-290_363-289delinsGT	XP_005271065.1:n.363-290_363-289delinsGT
NM_001363695.1:c.363-290_363-289delinsGT	NP_001350624.1:n.363-290_363-289delinsGT
NM_000310.4:c.363-290_363-289delinsGT MANE Select	NP_000301.1:n.363-290_363-289delinsGT
NM_001142604.2:c.125-2177_125-2176delinsGT	NP_001136076.1:n.125-2177_125-2176delinsGT
NM_001363695.2:c.363-290_363-289delinsGT	NP_001350624.1:n.363-290_363-289delinsGT