Canonical Allele Identifier: CA1141855619

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074375_40074379delinsTCTCT , CM000663.2:g.40074375_40074379delinsTCTCT	GRCh38
NC_000001.10:g.40540047_40540051delinsTCTCT , CM000663.1:g.40540047_40540051delinsTCTCT	GRCh37
NC_000001.9:g.40312634_40312638delinsTCTCT	NCBI36
NG_009192.1:g.28092_28096delinsAGAGA , LRG_690:g.28092_28096delinsAGAGA

Transcript Alleles

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