Canonical Allele Identifier: CA1164243660

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074336_40074342delinsCCTACTT , CM000663.2:g.40074336_40074342delinsCCTACTT	GRCh38
NC_000001.10:g.40540008_40540014delinsCCTACTT , CM000663.1:g.40540008_40540014delinsCCTACTT	GRCh37
NC_000001.9:g.40312595_40312601delinsCCTACTT	NCBI36
NG_009192.1:g.28129_28135delinsAAGTAGG , LRG_690:g.28129_28135delinsAAGTAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-159_796-153delinsAAGTAGG	ENSP00000394863.4:n.796-159_796-153delinsAAGTAGG
ENST00000439754.6:c.727-159_727-153delinsAAGTAGG	ENSP00000403207.2:n.727-159_727-153delinsAAGTAGG
ENST00000449045.7:c.490-159_490-153delinsAAGTAGG	ENSP00000392293.2:n.490-159_490-153delinsAAGTAGG
ENST00000527311.7:c.568-159_568-153delinsAAGTAGG	ENSP00000436695.3:n.568-159_568-153delinsAAGTAGG
ENST00000530076.6:c.142-159_142-153delinsAAGTAGG	ENSP00000434007.1:n.142-159_142-153delinsAAGTAGG
ENST00000530704.6:c.*422-159_*422-153delinsAAGTAGG	ENSP00000431655.1:n.*422-159_*422-153delinsAAGTAGG
ENST00000641083.1:c.889-159_889-153delinsAAGTAGG
ENST00000641236.1:n.1036-159_1036-153delinsAAGTAGG
ENST00000641319.1:c.*9-159_*9-153delinsAAGTAGG	ENSP00000493128.1:n.*9-159_*9-153delinsAAGTAGG
ENST00000641381.1:c.221-159_221-153delinsAAGTAGG
ENST00000641471.1:c.886-159_886-153delinsAAGTAGG	ENSP00000493146.1:n.886-159_886-153delinsAAGTAGG
ENST00000641691.1:c.*651-159_*651-153delinsAAGTAGG	ENSP00000492910.1:n.*651-159_*651-153delinsAAGTAGG
ENST00000641924.1:c.*228-159_*228-153delinsAAGTAGG	ENSP00000493063.1:n.*228-159_*228-153delinsAAGTAGG
ENST00000642050.2:c.799-159_799-153delinsAAGTAGG MANE Select	ENSP00000493153.1:n.799-159_799-153delinsAAGTAGG
ENST00000372775.2:n.196-159_196-153delinsAAGTAGG
ENST00000433473.7:c.799-159_799-153delinsAAGTAGG	ENSP00000394863.3:n.799-159_799-153delinsAAGTAGG
ENST00000439754.5:c.412-159_412-153delinsAAGTAGG	ENSP00000403207.1:n.412-159_412-153delinsAAGTAGG
ENST00000449045.6:c.490-159_490-153delinsAAGTAGG	ENSP00000392293.2:n.490-159_490-153delinsAAGTAGG
ENST00000527311.6:c.574-159_574-153delinsAAGTAGG	ENSP00000436695.2:n.574-159_574-153delinsAAGTAGG
ENST00000529905.5:c.799-159_799-153delinsAAGTAGG	ENSP00000432053.1:n.799-159_799-153delinsAAGTAGG
ENST00000530076.5:c.142-159_142-153delinsAAGTAGG	ENSP00000434007.1:n.142-159_142-153delinsAAGTAGG
ENST00000530704.5:c.*422-159_*422-153delinsAAGTAGG	ENSP00000431655.1:n.*422-159_*422-153delinsAAGTAGG
NM_000310.3:c.799-159_799-153delinsAAGTAGG , LRG_690t1:c.799-159_799-153delinsAAGTAGG	NP_000301.1:n.799-159_799-153delinsAAGTAGG
NM_001142604.1:c.490-159_490-153delinsAAGTAGG	NP_001136076.1:n.490-159_490-153delinsAAGTAGG
XM_005271008.1:c.727-159_727-153delinsAAGTAGG	XP_005271065.1:n.727-159_727-153delinsAAGTAGG
NM_001363695.1:c.727-159_727-153delinsAAGTAGG	NP_001350624.1:n.727-159_727-153delinsAAGTAGG
NM_000310.4:c.799-159_799-153delinsAAGTAGG MANE Select	NP_000301.1:n.799-159_799-153delinsAAGTAGG
NM_001142604.2:c.490-159_490-153delinsAAGTAGG	NP_001136076.1:n.490-159_490-153delinsAAGTAGG
NM_001363695.2:c.727-159_727-153delinsAAGTAGG	NP_001350624.1:n.727-159_727-153delinsAAGTAGG