Canonical Allele Identifier: CA2743276162
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074368_40074369insACA , CM000663.2:g.40074368_40074369insACA GRCh38
NC_000001.10:g.40540040_40540041insACA , CM000663.1:g.40540040_40540041insACA GRCh37
NC_000001.9:g.40312627_40312628insACA NCBI36
NG_009192.1:g.28102_28103insTGT , LRG_690:g.28102_28103insTGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.796-186_796-185insTGT ENSP00000394863.4:n.796-186_796-185insTGT
ENST00000439754.6:c.727-186_727-185insTGT ENSP00000403207.2:n.727-186_727-185insTGT
ENST00000449045.7:c.490-186_490-185insTGT ENSP00000392293.2:n.490-186_490-185insTGT
ENST00000527311.7:c.568-186_568-185insTGT ENSP00000436695.3:n.568-186_568-185insTGT
ENST00000530076.6:c.142-186_142-185insTGT ENSP00000434007.1:n.142-186_142-185insTGT
ENST00000530704.6:c.*422-186_*422-185insTGT ENSP00000431655.1:n.*422-186_*422-185insTGT
ENST00000641083.1:c.889-186_889-185insTGT
ENST00000641236.1:n.1036-186_1036-185insTGT
ENST00000641319.1:c.*9-186_*9-185insTGT ENSP00000493128.1:n.*9-186_*9-185insTGT
ENST00000641381.1:c.221-186_221-185insTGT
ENST00000641471.1:c.886-186_886-185insTGT ENSP00000493146.1:n.886-186_886-185insTGT
ENST00000641691.1:c.*651-186_*651-185insTGT ENSP00000492910.1:n.*651-186_*651-185insTGT
ENST00000641924.1:c.*228-186_*228-185insTGT ENSP00000493063.1:n.*228-186_*228-185insTGT
ENST00000642050.2:c.799-186_799-185insTGT MANE Select ENSP00000493153.1:n.799-186_799-185insTGT
ENST00000372775.2:n.196-186_196-185insTGT
ENST00000433473.7:c.799-186_799-185insTGT ENSP00000394863.3:n.799-186_799-185insTGT
ENST00000439754.5:c.412-186_412-185insTGT ENSP00000403207.1:n.412-186_412-185insTGT
ENST00000449045.6:c.490-186_490-185insTGT ENSP00000392293.2:n.490-186_490-185insTGT
ENST00000527311.6:c.574-186_574-185insTGT ENSP00000436695.2:n.574-186_574-185insTGT
ENST00000529905.5:c.799-186_799-185insTGT ENSP00000432053.1:n.799-186_799-185insTGT
ENST00000530076.5:c.142-186_142-185insTGT ENSP00000434007.1:n.142-186_142-185insTGT
ENST00000530704.5:c.*422-186_*422-185insTGT ENSP00000431655.1:n.*422-186_*422-185insTGT
NM_000310.3:c.799-186_799-185insTGT , LRG_690t1:c.799-186_799-185insTGT NP_000301.1:n.799-186_799-185insTGT
NM_001142604.1:c.490-186_490-185insTGT NP_001136076.1:n.490-186_490-185insTGT
XM_005271008.1:c.727-186_727-185insTGT XP_005271065.1:n.727-186_727-185insTGT
NM_001363695.1:c.727-186_727-185insTGT NP_001350624.1:n.727-186_727-185insTGT
NM_000310.4:c.799-186_799-185insTGT MANE Select NP_000301.1:n.799-186_799-185insTGT
NM_001142604.2:c.490-186_490-185insTGT NP_001136076.1:n.490-186_490-185insTGT
NM_001363695.2:c.727-186_727-185insTGT NP_001350624.1:n.727-186_727-185insTGT