Canonical Allele Identifier: CA2743276998
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078814_40078815del , CM000663.2:g.40078814_40078815del GRCh38
NC_000001.10:g.40544486_40544487del , CM000663.1:g.40544486_40544487del GRCh37
NC_000001.9:g.40317073_40317074del NCBI36
NG_009192.1:g.23657_23658del , LRG_690:g.23657_23658del

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.625-156_625-155del ENSP00000394863.4:n.625-156_625-155del
ENST00000439754.6:c.628-156_628-155del ENSP00000403207.2:n.628-156_628-155del
ENST00000449045.7:c.319-156_319-155del ENSP00000392293.2:n.319-156_319-155del
ENST00000527311.7:c.397-156_397-155del ENSP00000436695.3:n.397-156_397-155del
ENST00000530076.6:c.-30-156_-30-155del ENSP00000434007.1:n.-30-156_-30-155del
ENST00000530704.6:c.*251-156_*251-155del ENSP00000431655.1:n.*251-156_*251-155del
ENST00000641083.1:c.606-156_606-155del
ENST00000641236.1:n.865-156_865-155del
ENST00000641319.1:c.628-156_628-155del ENSP00000493128.1:n.628-156_628-155del
ENST00000641381.1:c.149-1901_149-1900del
ENST00000641471.1:c.715-156_715-155del ENSP00000493146.1:n.715-156_715-155del
ENST00000641691.1:c.*480-156_*480-155del ENSP00000492910.1:n.*480-156_*480-155del
ENST00000641924.1:c.*57-156_*57-155del ENSP00000493063.1:n.*57-156_*57-155del
ENST00000642050.2:c.628-156_628-155del MANE Select ENSP00000493153.1:n.628-156_628-155del
ENST00000372775.2:n.22_23del
ENST00000372779.8:c.715-156_715-155del ENSP00000361865.4:n.715-156_715-155del
ENST00000433473.7:c.628-156_628-155del ENSP00000394863.3:n.628-156_628-155del
ENST00000439754.5:c.313-156_313-155del ENSP00000403207.1:n.313-156_313-155del
ENST00000449045.6:c.319-156_319-155del ENSP00000392293.2:n.319-156_319-155del
ENST00000527311.6:c.403-156_403-155del ENSP00000436695.2:n.403-156_403-155del
ENST00000529905.5:c.628-156_628-155del ENSP00000432053.1:n.628-156_628-155del
ENST00000530076.5:c.-30-156_-30-155del ENSP00000434007.1:n.-30-156_-30-155del
ENST00000530704.5:c.*251-156_*251-155del ENSP00000431655.1:n.*251-156_*251-155del
NM_000310.3:c.628-156_628-155del , LRG_690t1:c.628-156_628-155del NP_000301.1:n.628-156_628-155del
NM_001142604.1:c.319-156_319-155del NP_001136076.1:n.319-156_319-155del
XM_005271008.1:c.628-156_628-155del XP_005271065.1:n.628-156_628-155del
NM_001363695.1:c.628-156_628-155del NP_001350624.1:n.628-156_628-155del
NM_000310.4:c.628-156_628-155del MANE Select NP_000301.1:n.628-156_628-155del
NM_001142604.2:c.319-156_319-155del NP_001136076.1:n.319-156_319-155del
NM_001363695.2:c.628-156_628-155del NP_001350624.1:n.628-156_628-155del