Canonical Allele Identifier: CA1164243698

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074367_40074385delinsTCTTTCTTTCTCTTTCTTC , CM000663.2:g.40074367_40074385delinsTCTTTCTTTCTCTTTCTTC	GRCh38
NC_000001.10:g.40540039_40540057delinsTCTTTCTTTCTCTTTCTTC , CM000663.1:g.40540039_40540057delinsTCTTTCTTTCTCTTTCTTC	GRCh37
NC_000001.9:g.40312626_40312644delinsTCTTTCTTTCTCTTTCTTC	NCBI36
NG_009192.1:g.28086_28104delinsGAAGAAAGAGAAAGAAAGA , LRG_690:g.28086_28104delinsGAAGAAAGAGAAAGAAAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-202_796-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000394863.4:n.796-202_796-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000439754.6:c.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000403207.2:n.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000449045.7:c.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000392293.2:n.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000527311.7:c.568-202_568-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000436695.3:n.568-202_568-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000530076.6:c.142-202_142-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000434007.1:n.142-202_142-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000530704.6:c.*422-202_*422-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000431655.1:n.*422-202_*422-184delinsGAAGAAAGAGAAAGAAAG...
ENST00000641083.1:c.889-202_889-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000641236.1:n.1036-202_1036-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000641319.1:c.*9-202_*9-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000493128.1:n.*9-202_*9-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000641381.1:c.221-202_221-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000641471.1:c.886-202_886-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000493146.1:n.886-202_886-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000641691.1:c.*651-202_*651-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000492910.1:n.*651-202_*651-184delinsGAAGAAAGAGAAAGAAAG...
ENST00000641924.1:c.*228-202_*228-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000493063.1:n.*228-202_*228-184delinsGAAGAAAGAGAAAGAAAG...
ENST00000642050.2:c.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA MANE Select	ENSP00000493153.1:n.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000372775.2:n.196-202_196-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000433473.7:c.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000394863.3:n.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000439754.5:c.412-202_412-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000403207.1:n.412-202_412-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000449045.6:c.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000392293.2:n.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000527311.6:c.574-202_574-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000436695.2:n.574-202_574-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000529905.5:c.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000432053.1:n.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000530076.5:c.142-202_142-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000434007.1:n.142-202_142-184delinsGAAGAAAGAGAAAGAAAGA
ENST00000530704.5:c.*422-202_*422-184delinsGAAGAAAGAGAAAGAAAGA	ENSP00000431655.1:n.*422-202_*422-184delinsGAAGAAAGAGAAAGAAAG...
NM_000310.3:c.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA , LRG_690t1:c.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA	NP_000301.1:n.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA
NM_001142604.1:c.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA	NP_001136076.1:n.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA
XM_005271008.1:c.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA	XP_005271065.1:n.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA
NM_001363695.1:c.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA	NP_001350624.1:n.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA
NM_000310.4:c.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA MANE Select	NP_000301.1:n.799-202_799-184delinsGAAGAAAGAGAAAGAAAGA
NM_001142604.2:c.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA	NP_001136076.1:n.490-202_490-184delinsGAAGAAAGAGAAAGAAAGA
NM_001363695.2:c.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA	NP_001350624.1:n.727-202_727-184delinsGAAGAAAGAGAAAGAAAGA