Canonical Allele Identifier: CA20999559
Gene: PPT1 HGNC NCBI

Linked Data

dbSNP Id: rs913103866

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074394_40074398del , CM000663.2:g.40074394_40074398del GRCh38
NC_000001.10:g.40540066_40540070del , CM000663.1:g.40540066_40540070del GRCh37
NC_000001.9:g.40312653_40312657del NCBI36
NG_009192.1:g.28080_28084del , LRG_690:g.28080_28084del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.796-208_796-204del ENSP00000394863.4:n.796-208_796-204del
ENST00000439754.6:c.727-208_727-204del ENSP00000403207.2:n.727-208_727-204del
ENST00000449045.7:c.490-208_490-204del ENSP00000392293.2:n.490-208_490-204del
ENST00000527311.7:c.568-208_568-204del ENSP00000436695.3:n.568-208_568-204del
ENST00000530076.6:c.142-208_142-204del ENSP00000434007.1:n.142-208_142-204del
ENST00000530704.6:c.*422-208_*422-204del ENSP00000431655.1:n.*422-208_*422-204del
ENST00000641083.1:c.889-208_889-204del
ENST00000641236.1:n.1036-208_1036-204del
ENST00000641319.1:c.*9-208_*9-204del ENSP00000493128.1:n.*9-208_*9-204del
ENST00000641381.1:c.221-208_221-204del
ENST00000641471.1:c.886-208_886-204del ENSP00000493146.1:n.886-208_886-204del
ENST00000641691.1:c.*651-208_*651-204del ENSP00000492910.1:n.*651-208_*651-204del
ENST00000641924.1:c.*228-208_*228-204del ENSP00000493063.1:n.*228-208_*228-204del
ENST00000642050.2:c.799-208_799-204del MANE Select ENSP00000493153.1:n.799-208_799-204del
ENST00000372775.2:n.196-208_196-204del
ENST00000433473.7:c.799-208_799-204del ENSP00000394863.3:n.799-208_799-204del
ENST00000439754.5:c.412-208_412-204del ENSP00000403207.1:n.412-208_412-204del
ENST00000449045.6:c.490-208_490-204del ENSP00000392293.2:n.490-208_490-204del
ENST00000527311.6:c.574-208_574-204del ENSP00000436695.2:n.574-208_574-204del
ENST00000529905.5:c.799-208_799-204del ENSP00000432053.1:n.799-208_799-204del
ENST00000530076.5:c.142-208_142-204del ENSP00000434007.1:n.142-208_142-204del
ENST00000530704.5:c.*422-208_*422-204del ENSP00000431655.1:n.*422-208_*422-204del
NM_000310.3:c.799-208_799-204del , LRG_690t1:c.799-208_799-204del NP_000301.1:n.799-208_799-204del
NM_001142604.1:c.490-208_490-204del NP_001136076.1:n.490-208_490-204del
XM_005271008.1:c.727-208_727-204del XP_005271065.1:n.727-208_727-204del
NM_001363695.1:c.727-208_727-204del NP_001350624.1:n.727-208_727-204del
NM_000310.4:c.799-208_799-204del MANE Select NP_000301.1:n.799-208_799-204del
NM_001142604.2:c.490-208_490-204del NP_001136076.1:n.490-208_490-204del
NM_001363695.2:c.727-208_727-204del NP_001350624.1:n.727-208_727-204del