Canonical Allele Identifier: CA2743276086
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074269_40074288del , CM000663.2:g.40074269_40074288del GRCh38
NC_000001.10:g.40539941_40539960del , CM000663.1:g.40539941_40539960del GRCh37
NC_000001.9:g.40312528_40312547del NCBI36
NG_009192.1:g.28183_28202del , LRG_690:g.28183_28202del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.796-105_796-86del ENSP00000394863.4:n.796-105_796-86del
ENST00000439754.6:c.727-105_727-86del ENSP00000403207.2:n.727-105_727-86del
ENST00000449045.7:c.490-105_490-86del ENSP00000392293.2:n.490-105_490-86del
ENST00000527311.7:c.568-105_568-86del ENSP00000436695.3:n.568-105_568-86del
ENST00000530076.6:c.142-105_142-86del ENSP00000434007.1:n.142-105_142-86del
ENST00000530704.6:c.*422-105_*422-86del ENSP00000431655.1:n.*422-105_*422-86del
ENST00000641083.1:c.889-105_889-86del
ENST00000641236.1:n.1036-105_1036-86del
ENST00000641319.1:c.*9-105_*9-86del ENSP00000493128.1:n.*9-105_*9-86del
ENST00000641381.1:c.221-105_221-86del
ENST00000641471.1:c.886-105_886-86del ENSP00000493146.1:n.886-105_886-86del
ENST00000641691.1:c.*651-105_*651-86del ENSP00000492910.1:n.*651-105_*651-86del
ENST00000641924.1:c.*228-105_*228-86del ENSP00000493063.1:n.*228-105_*228-86del
ENST00000642050.2:c.799-105_799-86del MANE Select ENSP00000493153.1:n.799-105_799-86del
ENST00000372775.2:n.196-105_196-86del
ENST00000433473.7:c.799-105_799-86del ENSP00000394863.3:n.799-105_799-86del
ENST00000439754.5:c.412-105_412-86del ENSP00000403207.1:n.412-105_412-86del
ENST00000449045.6:c.490-105_490-86del ENSP00000392293.2:n.490-105_490-86del
ENST00000527311.6:c.574-105_574-86del ENSP00000436695.2:n.574-105_574-86del
ENST00000529905.5:c.799-105_799-86del ENSP00000432053.1:n.799-105_799-86del
ENST00000530076.5:c.142-105_142-86del ENSP00000434007.1:n.142-105_142-86del
ENST00000530704.5:c.*422-105_*422-86del ENSP00000431655.1:n.*422-105_*422-86del
NM_000310.3:c.799-105_799-86del , LRG_690t1:c.799-105_799-86del NP_000301.1:n.799-105_799-86del
NM_001142604.1:c.490-105_490-86del NP_001136076.1:n.490-105_490-86del
XM_005271008.1:c.727-105_727-86del XP_005271065.1:n.727-105_727-86del
NM_001363695.1:c.727-105_727-86del NP_001350624.1:n.727-105_727-86del
NM_000310.4:c.799-105_799-86del MANE Select NP_000301.1:n.799-105_799-86del
NM_001142604.2:c.490-105_490-86del NP_001136076.1:n.490-105_490-86del
NM_001363695.2:c.727-105_727-86del NP_001350624.1:n.727-105_727-86del