Canonical Allele Identifier: CA1164243706

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074375_40074376delinsTC , CM000663.2:g.40074375_40074376delinsTC	GRCh38
NC_000001.10:g.40540047_40540048delinsTC , CM000663.1:g.40540047_40540048delinsTC	GRCh37
NC_000001.9:g.40312634_40312635delinsTC	NCBI36
NG_009192.1:g.28095_28096delinsGA , LRG_690:g.28095_28096delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-193_796-192delinsGA	ENSP00000394863.4:n.796-193_796-192delinsGA
ENST00000439754.6:c.727-193_727-192delinsGA	ENSP00000403207.2:n.727-193_727-192delinsGA
ENST00000449045.7:c.490-193_490-192delinsGA	ENSP00000392293.2:n.490-193_490-192delinsGA
ENST00000527311.7:c.568-193_568-192delinsGA	ENSP00000436695.3:n.568-193_568-192delinsGA
ENST00000530076.6:c.142-193_142-192delinsGA	ENSP00000434007.1:n.142-193_142-192delinsGA
ENST00000530704.6:c.*422-193_*422-192delinsGA	ENSP00000431655.1:n.*422-193_*422-192delinsGA
ENST00000641083.1:c.889-193_889-192delinsGA
ENST00000641236.1:n.1036-193_1036-192delinsGA
ENST00000641319.1:c.*9-193_*9-192delinsGA	ENSP00000493128.1:n.*9-193_*9-192delinsGA
ENST00000641381.1:c.221-193_221-192delinsGA
ENST00000641471.1:c.886-193_886-192delinsGA	ENSP00000493146.1:n.886-193_886-192delinsGA
ENST00000641691.1:c.*651-193_*651-192delinsGA	ENSP00000492910.1:n.*651-193_*651-192delinsGA
ENST00000641924.1:c.*228-193_*228-192delinsGA	ENSP00000493063.1:n.*228-193_*228-192delinsGA
ENST00000642050.2:c.799-193_799-192delinsGA MANE Select	ENSP00000493153.1:n.799-193_799-192delinsGA
ENST00000372775.2:n.196-193_196-192delinsGA
ENST00000433473.7:c.799-193_799-192delinsGA	ENSP00000394863.3:n.799-193_799-192delinsGA
ENST00000439754.5:c.412-193_412-192delinsGA	ENSP00000403207.1:n.412-193_412-192delinsGA
ENST00000449045.6:c.490-193_490-192delinsGA	ENSP00000392293.2:n.490-193_490-192delinsGA
ENST00000527311.6:c.574-193_574-192delinsGA	ENSP00000436695.2:n.574-193_574-192delinsGA
ENST00000529905.5:c.799-193_799-192delinsGA	ENSP00000432053.1:n.799-193_799-192delinsGA
ENST00000530076.5:c.142-193_142-192delinsGA	ENSP00000434007.1:n.142-193_142-192delinsGA
ENST00000530704.5:c.*422-193_*422-192delinsGA	ENSP00000431655.1:n.*422-193_*422-192delinsGA
NM_000310.3:c.799-193_799-192delinsGA , LRG_690t1:c.799-193_799-192delinsGA	NP_000301.1:n.799-193_799-192delinsGA
NM_001142604.1:c.490-193_490-192delinsGA	NP_001136076.1:n.490-193_490-192delinsGA
XM_005271008.1:c.727-193_727-192delinsGA	XP_005271065.1:n.727-193_727-192delinsGA
NM_001363695.1:c.727-193_727-192delinsGA	NP_001350624.1:n.727-193_727-192delinsGA
NM_000310.4:c.799-193_799-192delinsGA MANE Select	NP_000301.1:n.799-193_799-192delinsGA
NM_001142604.2:c.490-193_490-192delinsGA	NP_001136076.1:n.490-193_490-192delinsGA
NM_001363695.2:c.727-193_727-192delinsGA	NP_001350624.1:n.727-193_727-192delinsGA