Canonical Allele Identifier: CA1164243722

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074386_40074391delinsCTTTCT , CM000663.2:g.40074386_40074391delinsCTTTCT	GRCh38
NC_000001.10:g.40540058_40540063delinsCTTTCT , CM000663.1:g.40540058_40540063delinsCTTTCT	GRCh37
NC_000001.9:g.40312645_40312650delinsCTTTCT	NCBI36
NG_009192.1:g.28080_28085delinsAGAAAG , LRG_690:g.28080_28085delinsAGAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-208_796-203delinsAGAAAG	ENSP00000394863.4:n.796-208_796-203delinsAGAAAG
ENST00000439754.6:c.727-208_727-203delinsAGAAAG	ENSP00000403207.2:n.727-208_727-203delinsAGAAAG
ENST00000449045.7:c.490-208_490-203delinsAGAAAG	ENSP00000392293.2:n.490-208_490-203delinsAGAAAG
ENST00000527311.7:c.568-208_568-203delinsAGAAAG	ENSP00000436695.3:n.568-208_568-203delinsAGAAAG
ENST00000530076.6:c.142-208_142-203delinsAGAAAG	ENSP00000434007.1:n.142-208_142-203delinsAGAAAG
ENST00000530704.6:c.*422-208_*422-203delinsAGAAAG	ENSP00000431655.1:n.*422-208_*422-203delinsAGAAAG
ENST00000641083.1:c.889-208_889-203delinsAGAAAG
ENST00000641236.1:n.1036-208_1036-203delinsAGAAAG
ENST00000641319.1:c.*9-208_*9-203delinsAGAAAG	ENSP00000493128.1:n.*9-208_*9-203delinsAGAAAG
ENST00000641381.1:c.221-208_221-203delinsAGAAAG
ENST00000641471.1:c.886-208_886-203delinsAGAAAG	ENSP00000493146.1:n.886-208_886-203delinsAGAAAG
ENST00000641691.1:c.*651-208_*651-203delinsAGAAAG	ENSP00000492910.1:n.*651-208_*651-203delinsAGAAAG
ENST00000641924.1:c.*228-208_*228-203delinsAGAAAG	ENSP00000493063.1:n.*228-208_*228-203delinsAGAAAG
ENST00000642050.2:c.799-208_799-203delinsAGAAAG MANE Select	ENSP00000493153.1:n.799-208_799-203delinsAGAAAG
ENST00000372775.2:n.196-208_196-203delinsAGAAAG
ENST00000433473.7:c.799-208_799-203delinsAGAAAG	ENSP00000394863.3:n.799-208_799-203delinsAGAAAG
ENST00000439754.5:c.412-208_412-203delinsAGAAAG	ENSP00000403207.1:n.412-208_412-203delinsAGAAAG
ENST00000449045.6:c.490-208_490-203delinsAGAAAG	ENSP00000392293.2:n.490-208_490-203delinsAGAAAG
ENST00000527311.6:c.574-208_574-203delinsAGAAAG	ENSP00000436695.2:n.574-208_574-203delinsAGAAAG
ENST00000529905.5:c.799-208_799-203delinsAGAAAG	ENSP00000432053.1:n.799-208_799-203delinsAGAAAG
ENST00000530076.5:c.142-208_142-203delinsAGAAAG	ENSP00000434007.1:n.142-208_142-203delinsAGAAAG
ENST00000530704.5:c.*422-208_*422-203delinsAGAAAG	ENSP00000431655.1:n.*422-208_*422-203delinsAGAAAG
NM_000310.3:c.799-208_799-203delinsAGAAAG , LRG_690t1:c.799-208_799-203delinsAGAAAG	NP_000301.1:n.799-208_799-203delinsAGAAAG
NM_001142604.1:c.490-208_490-203delinsAGAAAG	NP_001136076.1:n.490-208_490-203delinsAGAAAG
XM_005271008.1:c.727-208_727-203delinsAGAAAG	XP_005271065.1:n.727-208_727-203delinsAGAAAG
NM_001363695.1:c.727-208_727-203delinsAGAAAG	NP_001350624.1:n.727-208_727-203delinsAGAAAG
NM_000310.4:c.799-208_799-203delinsAGAAAG MANE Select	NP_000301.1:n.799-208_799-203delinsAGAAAG
NM_001142604.2:c.490-208_490-203delinsAGAAAG	NP_001136076.1:n.490-208_490-203delinsAGAAAG
NM_001363695.2:c.727-208_727-203delinsAGAAAG	NP_001350624.1:n.727-208_727-203delinsAGAAAG