Canonical Allele Identifier: CA2743276759
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40091499_40091500insCAT , CM000663.2:g.40091499_40091500insCAT GRCh38
NC_000001.10:g.40557171_40557172insCAT , CM000663.1:g.40557171_40557172insCAT GRCh37
NC_000001.9:g.40329758_40329759insCAT NCBI36
NG_009192.1:g.10971_10972insATG , LRG_690:g.10971_10972insATG

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.*199-101_*199-100insATG ENSP00000361865.5:n.*199-101_*199-100insATG
ENST00000433473.8:c.360-101_360-100insATG ENSP00000394863.4:n.360-101_360-100insATG
ENST00000439754.6:c.363-101_363-100insATG ENSP00000403207.2:n.363-101_363-100insATG
ENST00000449045.7:c.125-1988_125-1987insATG ENSP00000392293.2:n.125-1988_125-1987insATG
ENST00000526547.2:c.643-101_643-100insATG
ENST00000527311.7:c.235-101_235-100insATG ENSP00000436695.3:n.235-101_235-100insATG
ENST00000530704.6:c.363-101_363-100insATG ENSP00000431655.1:n.363-101_363-100insATG
ENST00000641083.1:c.341-101_341-100insATG
ENST00000641236.1:n.600-101_600-100insATG
ENST00000641319.1:c.363-101_363-100insATG ENSP00000493128.1:n.363-101_363-100insATG
ENST00000641471.1:c.450-101_450-100insATG ENSP00000493146.1:n.450-101_450-100insATG
ENST00000641548.1:c.*215-101_*215-100insATG ENSP00000492984.1:n.*215-101_*215-100insATG
ENST00000641691.1:c.*215-101_*215-100insATG ENSP00000492910.1:n.*215-101_*215-100insATG
ENST00000641924.1:c.124+5615_124+5616insATG ENSP00000493063.1:n.124+5615_124+5616insATG
ENST00000642050.2:c.363-101_363-100insATG MANE Select ENSP00000493153.1:n.363-101_363-100insATG
ENST00000372779.8:c.450-101_450-100insATG ENSP00000361865.4:n.450-101_450-100insATG
ENST00000433473.7:c.363-101_363-100insATG ENSP00000394863.3:n.363-101_363-100insATG
ENST00000439754.5:c.48-101_48-100insATG ENSP00000403207.1:n.48-101_48-100insATG
ENST00000449045.6:c.125-1988_125-1987insATG ENSP00000392293.2:n.125-1988_125-1987insATG
ENST00000526547.1:c.213-101_213-100insATG ENSP00000436481.1:n.213-101_213-100insATG
ENST00000527311.6:c.138-101_138-100insATG ENSP00000436695.2:n.138-101_138-100insATG
ENST00000529905.5:c.363-101_363-100insATG ENSP00000432053.1:n.363-101_363-100insATG
ENST00000530704.5:c.363-101_363-100insATG ENSP00000431655.1:n.363-101_363-100insATG
NM_000310.3:c.363-101_363-100insATG , LRG_690t1:c.363-101_363-100insATG NP_000301.1:n.363-101_363-100insATG
NM_001142604.1:c.125-1988_125-1987insATG NP_001136076.1:n.125-1988_125-1987insATG
XM_005271008.1:c.363-101_363-100insATG XP_005271065.1:n.363-101_363-100insATG
NM_001363695.1:c.363-101_363-100insATG NP_001350624.1:n.363-101_363-100insATG
NM_000310.4:c.363-101_363-100insATG MANE Select NP_000301.1:n.363-101_363-100insATG
NM_001142604.2:c.125-1988_125-1987insATG NP_001136076.1:n.125-1988_125-1987insATG
NM_001363695.2:c.363-101_363-100insATG NP_001350624.1:n.363-101_363-100insATG