Canonical Allele Identifier: CA2743276121

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074321_40074326del , CM000663.2:g.40074321_40074326del	GRCh38
NC_000001.10:g.40539993_40539998del , CM000663.1:g.40539993_40539998del	GRCh37
NC_000001.9:g.40312580_40312585del	NCBI36
NG_009192.1:g.28145_28150del , LRG_690:g.28145_28150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-143_796-138del	ENSP00000394863.4:n.796-143_796-138del
ENST00000439754.6:c.727-143_727-138del	ENSP00000403207.2:n.727-143_727-138del
ENST00000449045.7:c.490-143_490-138del	ENSP00000392293.2:n.490-143_490-138del
ENST00000527311.7:c.568-143_568-138del	ENSP00000436695.3:n.568-143_568-138del
ENST00000530076.6:c.142-143_142-138del	ENSP00000434007.1:n.142-143_142-138del
ENST00000530704.6:c.*422-143_*422-138del	ENSP00000431655.1:n.*422-143_*422-138del
ENST00000641083.1:c.889-143_889-138del
ENST00000641236.1:n.1036-143_1036-138del
ENST00000641319.1:c.*9-143_*9-138del	ENSP00000493128.1:n.*9-143_*9-138del
ENST00000641381.1:c.221-143_221-138del
ENST00000641471.1:c.886-143_886-138del	ENSP00000493146.1:n.886-143_886-138del
ENST00000641691.1:c.*651-143_*651-138del	ENSP00000492910.1:n.*651-143_*651-138del
ENST00000641924.1:c.*228-143_*228-138del	ENSP00000493063.1:n.*228-143_*228-138del
ENST00000642050.2:c.799-143_799-138del MANE Select	ENSP00000493153.1:n.799-143_799-138del
ENST00000372775.2:n.196-143_196-138del
ENST00000433473.7:c.799-143_799-138del	ENSP00000394863.3:n.799-143_799-138del
ENST00000439754.5:c.412-143_412-138del	ENSP00000403207.1:n.412-143_412-138del
ENST00000449045.6:c.490-143_490-138del	ENSP00000392293.2:n.490-143_490-138del
ENST00000527311.6:c.574-143_574-138del	ENSP00000436695.2:n.574-143_574-138del
ENST00000529905.5:c.799-143_799-138del	ENSP00000432053.1:n.799-143_799-138del
ENST00000530076.5:c.142-143_142-138del	ENSP00000434007.1:n.142-143_142-138del
ENST00000530704.5:c.*422-143_*422-138del	ENSP00000431655.1:n.*422-143_*422-138del
NM_000310.3:c.799-143_799-138del , LRG_690t1:c.799-143_799-138del	NP_000301.1:n.799-143_799-138del
NM_001142604.1:c.490-143_490-138del	NP_001136076.1:n.490-143_490-138del
XM_005271008.1:c.727-143_727-138del	XP_005271065.1:n.727-143_727-138del
NM_001363695.1:c.727-143_727-138del	NP_001350624.1:n.727-143_727-138del
NM_000310.4:c.799-143_799-138del MANE Select	NP_000301.1:n.799-143_799-138del
NM_001142604.2:c.490-143_490-138del	NP_001136076.1:n.490-143_490-138del
NM_001363695.2:c.727-143_727-138del	NP_001350624.1:n.727-143_727-138del