Canonical Allele Identifier: CA1164252739

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092454_40092457delinsTCTC , CM000663.2:g.40092454_40092457delinsTCTC	GRCh38
NC_000001.10:g.40558126_40558129delinsTCTC , CM000663.1:g.40558126_40558129delinsTCTC	GRCh37
NC_000001.9:g.40330713_40330716delinsTCTC	NCBI36
NG_009192.1:g.10014_10017delinsGAGA , LRG_690:g.10014_10017delinsGAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*11_*14delinsGAGA	ENSP00000361865.5:n.*11_*14delinsGAGA
ENST00000433473.8:c.172_175delinsGAGA	ENSP00000394863.4:p.Glu58=
ENST00000439754.6:c.175_178delinsGAGA	ENSP00000403207.2:p.Glu59=
ENST00000449045.7:c.125-2945_125-2942delinsGAGA	ENSP00000392293.2:n.125-2945_125-2942delinsGAGA
ENST00000526547.2:c.455_458delinsGAGA
ENST00000527311.7:c.175_178delinsGAGA	ENSP00000436695.3:p.Glu59=
ENST00000530704.6:c.175_178delinsGAGA	ENSP00000431655.1:p.Glu59=
ENST00000641083.1:c.153_156delinsGAGA
ENST00000641236.1:n.187_190delinsGAGA
ENST00000641319.1:c.175_178delinsGAGA	ENSP00000493128.1:p.Glu59=
ENST00000641471.1:c.262_265delinsGAGA	ENSP00000493146.1:p.Glu88=
ENST00000641548.1:c.*27_*30delinsGAGA	ENSP00000492984.1:n.*27_*30delinsGAGA
ENST00000641691.1:c.*27_*30delinsGAGA	ENSP00000492910.1:n.*27_*30delinsGAGA
ENST00000641924.1:c.124+4658_124+4661delinsGAGA	ENSP00000493063.1:n.124+4658_124+4661delinsGAGA
ENST00000642050.2:c.175_178delinsGAGA MANE Select	ENSP00000493153.1:p.Glu59=
ENST00000372779.8:c.262_265delinsGAGA	ENSP00000361865.4:p.Glu88=
ENST00000433473.7:c.175_178delinsGAGA	ENSP00000394863.3:p.Glu59=
ENST00000449045.6:c.125-2945_125-2942delinsGAGA	ENSP00000392293.2:n.125-2945_125-2942delinsGAGA
ENST00000526547.1:c.25_28delinsGAGA	ENSP00000436481.1:p.Glu9=
ENST00000527311.6:c.125-400_125-397delinsGAGA	ENSP00000436695.2:n.125-400_125-397delinsGAGA
ENST00000529905.5:c.175_178delinsGAGA	ENSP00000432053.1:p.Glu59=
ENST00000530704.5:c.175_178delinsGAGA	ENSP00000431655.1:p.Glu59=
NM_000310.3:c.175_178delinsGAGA , LRG_690t1:c.175_178delinsGAGA	NP_000301.1:p.Glu59=
NM_001142604.1:c.125-2945_125-2942delinsGAGA	NP_001136076.1:n.125-2945_125-2942delinsGAGA
XM_005271008.1:c.175_178delinsGAGA	XP_005271065.1:p.Glu59=
NM_001363695.1:c.175_178delinsGAGA	NP_001350624.1:p.Glu59=
NM_000310.4:c.175_178delinsGAGA MANE Select	NP_000301.1:p.Glu59=
NM_001142604.2:c.125-2945_125-2942delinsGAGA	NP_001136076.1:n.125-2945_125-2942delinsGAGA
NM_001363695.2:c.175_178delinsGAGA	NP_001350624.1:p.Glu59=