Canonical Allele Identifier: CA2743276165

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074373_40074374insA , CM000663.2:g.40074373_40074374insA	GRCh38
NC_000001.10:g.40540045_40540046insA , CM000663.1:g.40540045_40540046insA	GRCh37
NC_000001.9:g.40312632_40312633insA	NCBI36
NG_009192.1:g.28097_28098insT , LRG_690:g.28097_28098insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-191_796-190insT	ENSP00000394863.4:n.796-191_796-190insT
ENST00000439754.6:c.727-191_727-190insT	ENSP00000403207.2:n.727-191_727-190insT
ENST00000449045.7:c.490-191_490-190insT	ENSP00000392293.2:n.490-191_490-190insT
ENST00000527311.7:c.568-191_568-190insT	ENSP00000436695.3:n.568-191_568-190insT
ENST00000530076.6:c.142-191_142-190insT	ENSP00000434007.1:n.142-191_142-190insT
ENST00000530704.6:c.*422-191_*422-190insT	ENSP00000431655.1:n.*422-191_*422-190insT
ENST00000641083.1:c.889-191_889-190insT
ENST00000641236.1:n.1036-191_1036-190insT
ENST00000641319.1:c.*9-191_*9-190insT	ENSP00000493128.1:n.*9-191_*9-190insT
ENST00000641381.1:c.221-191_221-190insT
ENST00000641471.1:c.886-191_886-190insT	ENSP00000493146.1:n.886-191_886-190insT
ENST00000641691.1:c.*651-191_*651-190insT	ENSP00000492910.1:n.*651-191_*651-190insT
ENST00000641924.1:c.*228-191_*228-190insT	ENSP00000493063.1:n.*228-191_*228-190insT
ENST00000642050.2:c.799-191_799-190insT MANE Select	ENSP00000493153.1:n.799-191_799-190insT
ENST00000372775.2:n.196-191_196-190insT
ENST00000433473.7:c.799-191_799-190insT	ENSP00000394863.3:n.799-191_799-190insT
ENST00000439754.5:c.412-191_412-190insT	ENSP00000403207.1:n.412-191_412-190insT
ENST00000449045.6:c.490-191_490-190insT	ENSP00000392293.2:n.490-191_490-190insT
ENST00000527311.6:c.574-191_574-190insT	ENSP00000436695.2:n.574-191_574-190insT
ENST00000529905.5:c.799-191_799-190insT	ENSP00000432053.1:n.799-191_799-190insT
ENST00000530076.5:c.142-191_142-190insT	ENSP00000434007.1:n.142-191_142-190insT
ENST00000530704.5:c.*422-191_*422-190insT	ENSP00000431655.1:n.*422-191_*422-190insT
NM_000310.3:c.799-191_799-190insT , LRG_690t1:c.799-191_799-190insT	NP_000301.1:n.799-191_799-190insT
NM_001142604.1:c.490-191_490-190insT	NP_001136076.1:n.490-191_490-190insT
XM_005271008.1:c.727-191_727-190insT	XP_005271065.1:n.727-191_727-190insT
NM_001363695.1:c.727-191_727-190insT	NP_001350624.1:n.727-191_727-190insT
NM_000310.4:c.799-191_799-190insT MANE Select	NP_000301.1:n.799-191_799-190insT
NM_001142604.2:c.490-191_490-190insT	NP_001136076.1:n.490-191_490-190insT
NM_001363695.2:c.727-191_727-190insT	NP_001350624.1:n.727-191_727-190insT