Canonical Allele Identifier: CA1164243720

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074385_40074389delinsCCTTT , CM000663.2:g.40074385_40074389delinsCCTTT	GRCh38
NC_000001.10:g.40540057_40540061delinsCCTTT , CM000663.1:g.40540057_40540061delinsCCTTT	GRCh37
NC_000001.9:g.40312644_40312648delinsCCTTT	NCBI36
NG_009192.1:g.28082_28086delinsAAAGG , LRG_690:g.28082_28086delinsAAAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-206_796-202delinsAAAGG	ENSP00000394863.4:n.796-206_796-202delinsAAAGG
ENST00000439754.6:c.727-206_727-202delinsAAAGG	ENSP00000403207.2:n.727-206_727-202delinsAAAGG
ENST00000449045.7:c.490-206_490-202delinsAAAGG	ENSP00000392293.2:n.490-206_490-202delinsAAAGG
ENST00000527311.7:c.568-206_568-202delinsAAAGG	ENSP00000436695.3:n.568-206_568-202delinsAAAGG
ENST00000530076.6:c.142-206_142-202delinsAAAGG	ENSP00000434007.1:n.142-206_142-202delinsAAAGG
ENST00000530704.6:c.*422-206_*422-202delinsAAAGG	ENSP00000431655.1:n.*422-206_*422-202delinsAAAGG
ENST00000641083.1:c.889-206_889-202delinsAAAGG
ENST00000641236.1:n.1036-206_1036-202delinsAAAGG
ENST00000641319.1:c.*9-206_*9-202delinsAAAGG	ENSP00000493128.1:n.*9-206_*9-202delinsAAAGG
ENST00000641381.1:c.221-206_221-202delinsAAAGG
ENST00000641471.1:c.886-206_886-202delinsAAAGG	ENSP00000493146.1:n.886-206_886-202delinsAAAGG
ENST00000641691.1:c.*651-206_*651-202delinsAAAGG	ENSP00000492910.1:n.*651-206_*651-202delinsAAAGG
ENST00000641924.1:c.*228-206_*228-202delinsAAAGG	ENSP00000493063.1:n.*228-206_*228-202delinsAAAGG
ENST00000642050.2:c.799-206_799-202delinsAAAGG MANE Select	ENSP00000493153.1:n.799-206_799-202delinsAAAGG
ENST00000372775.2:n.196-206_196-202delinsAAAGG
ENST00000433473.7:c.799-206_799-202delinsAAAGG	ENSP00000394863.3:n.799-206_799-202delinsAAAGG
ENST00000439754.5:c.412-206_412-202delinsAAAGG	ENSP00000403207.1:n.412-206_412-202delinsAAAGG
ENST00000449045.6:c.490-206_490-202delinsAAAGG	ENSP00000392293.2:n.490-206_490-202delinsAAAGG
ENST00000527311.6:c.574-206_574-202delinsAAAGG	ENSP00000436695.2:n.574-206_574-202delinsAAAGG
ENST00000529905.5:c.799-206_799-202delinsAAAGG	ENSP00000432053.1:n.799-206_799-202delinsAAAGG
ENST00000530076.5:c.142-206_142-202delinsAAAGG	ENSP00000434007.1:n.142-206_142-202delinsAAAGG
ENST00000530704.5:c.*422-206_*422-202delinsAAAGG	ENSP00000431655.1:n.*422-206_*422-202delinsAAAGG
NM_000310.3:c.799-206_799-202delinsAAAGG , LRG_690t1:c.799-206_799-202delinsAAAGG	NP_000301.1:n.799-206_799-202delinsAAAGG
NM_001142604.1:c.490-206_490-202delinsAAAGG	NP_001136076.1:n.490-206_490-202delinsAAAGG
XM_005271008.1:c.727-206_727-202delinsAAAGG	XP_005271065.1:n.727-206_727-202delinsAAAGG
NM_001363695.1:c.727-206_727-202delinsAAAGG	NP_001350624.1:n.727-206_727-202delinsAAAGG
NM_000310.4:c.799-206_799-202delinsAAAGG MANE Select	NP_000301.1:n.799-206_799-202delinsAAAGG
NM_001142604.2:c.490-206_490-202delinsAAAGG	NP_001136076.1:n.490-206_490-202delinsAAAGG
NM_001363695.2:c.727-206_727-202delinsAAAGG	NP_001350624.1:n.727-206_727-202delinsAAAGG