Canonical Allele Identifier: CA2743276881
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091549_40091550insAGA , CM000663.2:g.40091549_40091550insAGA GRCh38
NC_000001.10:g.40557221_40557222insAGA , CM000663.1:g.40557221_40557222insAGA GRCh37
NC_000001.9:g.40329808_40329809insAGA NCBI36
NG_009192.1:g.10921_10922insTCT , LRG_690:g.10921_10922insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-151_*199-150insTCT ENSP00000361865.5:n.*199-151_*199-150insTCT
ENST00000433473.8:c.360-151_360-150insTCT ENSP00000394863.4:n.360-151_360-150insTCT
ENST00000439754.6:c.363-151_363-150insTCT ENSP00000403207.2:n.363-151_363-150insTCT
ENST00000449045.7:c.125-2038_125-2037insTCT ENSP00000392293.2:n.125-2038_125-2037insTCT
ENST00000526547.2:c.643-151_643-150insTCT
ENST00000527311.7:c.235-151_235-150insTCT ENSP00000436695.3:n.235-151_235-150insTCT
ENST00000530704.6:c.363-151_363-150insTCT ENSP00000431655.1:n.363-151_363-150insTCT
ENST00000641083.1:c.341-151_341-150insTCT
ENST00000641236.1:n.600-151_600-150insTCT
ENST00000641319.1:c.363-151_363-150insTCT ENSP00000493128.1:n.363-151_363-150insTCT
ENST00000641471.1:c.450-151_450-150insTCT ENSP00000493146.1:n.450-151_450-150insTCT
ENST00000641548.1:c.*215-151_*215-150insTCT ENSP00000492984.1:n.*215-151_*215-150insTCT
ENST00000641691.1:c.*215-151_*215-150insTCT ENSP00000492910.1:n.*215-151_*215-150insTCT
ENST00000641924.1:c.124+5565_124+5566insTCT ENSP00000493063.1:n.124+5565_124+5566insTCT
ENST00000642050.2:c.363-151_363-150insTCT MANE Select ENSP00000493153.1:n.363-151_363-150insTCT
ENST00000372779.8:c.450-151_450-150insTCT ENSP00000361865.4:n.450-151_450-150insTCT
ENST00000433473.7:c.363-151_363-150insTCT ENSP00000394863.3:n.363-151_363-150insTCT
ENST00000439754.5:c.48-151_48-150insTCT ENSP00000403207.1:n.48-151_48-150insTCT
ENST00000449045.6:c.125-2038_125-2037insTCT ENSP00000392293.2:n.125-2038_125-2037insTCT
ENST00000526547.1:c.213-151_213-150insTCT ENSP00000436481.1:n.213-151_213-150insTCT
ENST00000527311.6:c.138-151_138-150insTCT ENSP00000436695.2:n.138-151_138-150insTCT
ENST00000529905.5:c.363-151_363-150insTCT ENSP00000432053.1:n.363-151_363-150insTCT
ENST00000530704.5:c.363-151_363-150insTCT ENSP00000431655.1:n.363-151_363-150insTCT
NM_000310.3:c.363-151_363-150insTCT , LRG_690t1:c.363-151_363-150insTCT NP_000301.1:n.363-151_363-150insTCT
NM_001142604.1:c.125-2038_125-2037insTCT NP_001136076.1:n.125-2038_125-2037insTCT
XM_005271008.1:c.363-151_363-150insTCT XP_005271065.1:n.363-151_363-150insTCT
NM_001363695.1:c.363-151_363-150insTCT NP_001350624.1:n.363-151_363-150insTCT
NM_000310.4:c.363-151_363-150insTCT MANE Select NP_000301.1:n.363-151_363-150insTCT
NM_001142604.2:c.125-2038_125-2037insTCT NP_001136076.1:n.125-2038_125-2037insTCT
NM_001363695.2:c.363-151_363-150insTCT NP_001350624.1:n.363-151_363-150insTCT