Canonical Allele Identifier: CA2743276128
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40074335_40074336insAGA , CM000663.2:g.40074335_40074336insAGA GRCh38
NC_000001.10:g.40540007_40540008insAGA , CM000663.1:g.40540007_40540008insAGA GRCh37
NC_000001.9:g.40312594_40312595insAGA NCBI36
NG_009192.1:g.28135_28136insTCT , LRG_690:g.28135_28136insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.796-153_796-152insTCT ENSP00000394863.4:n.796-153_796-152insTCT
ENST00000439754.6:c.727-153_727-152insTCT ENSP00000403207.2:n.727-153_727-152insTCT
ENST00000449045.7:c.490-153_490-152insTCT ENSP00000392293.2:n.490-153_490-152insTCT
ENST00000527311.7:c.568-153_568-152insTCT ENSP00000436695.3:n.568-153_568-152insTCT
ENST00000530076.6:c.142-153_142-152insTCT ENSP00000434007.1:n.142-153_142-152insTCT
ENST00000530704.6:c.*422-153_*422-152insTCT ENSP00000431655.1:n.*422-153_*422-152insTCT
ENST00000641083.1:c.889-153_889-152insTCT
ENST00000641236.1:n.1036-153_1036-152insTCT
ENST00000641319.1:c.*9-153_*9-152insTCT ENSP00000493128.1:n.*9-153_*9-152insTCT
ENST00000641381.1:c.221-153_221-152insTCT
ENST00000641471.1:c.886-153_886-152insTCT ENSP00000493146.1:n.886-153_886-152insTCT
ENST00000641691.1:c.*651-153_*651-152insTCT ENSP00000492910.1:n.*651-153_*651-152insTCT
ENST00000641924.1:c.*228-153_*228-152insTCT ENSP00000493063.1:n.*228-153_*228-152insTCT
ENST00000642050.2:c.799-153_799-152insTCT MANE Select ENSP00000493153.1:n.799-153_799-152insTCT
ENST00000372775.2:n.196-153_196-152insTCT
ENST00000433473.7:c.799-153_799-152insTCT ENSP00000394863.3:n.799-153_799-152insTCT
ENST00000439754.5:c.412-153_412-152insTCT ENSP00000403207.1:n.412-153_412-152insTCT
ENST00000449045.6:c.490-153_490-152insTCT ENSP00000392293.2:n.490-153_490-152insTCT
ENST00000527311.6:c.574-153_574-152insTCT ENSP00000436695.2:n.574-153_574-152insTCT
ENST00000529905.5:c.799-153_799-152insTCT ENSP00000432053.1:n.799-153_799-152insTCT
ENST00000530076.5:c.142-153_142-152insTCT ENSP00000434007.1:n.142-153_142-152insTCT
ENST00000530704.5:c.*422-153_*422-152insTCT ENSP00000431655.1:n.*422-153_*422-152insTCT
NM_000310.3:c.799-153_799-152insTCT , LRG_690t1:c.799-153_799-152insTCT NP_000301.1:n.799-153_799-152insTCT
NM_001142604.1:c.490-153_490-152insTCT NP_001136076.1:n.490-153_490-152insTCT
XM_005271008.1:c.727-153_727-152insTCT XP_005271065.1:n.727-153_727-152insTCT
NM_001363695.1:c.727-153_727-152insTCT NP_001350624.1:n.727-153_727-152insTCT
NM_000310.4:c.799-153_799-152insTCT MANE Select NP_000301.1:n.799-153_799-152insTCT
NM_001142604.2:c.490-153_490-152insTCT NP_001136076.1:n.490-153_490-152insTCT
NM_001363695.2:c.727-153_727-152insTCT NP_001350624.1:n.727-153_727-152insTCT