Canonical Allele Identifier: CA2743276886
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078765_40078766insAGA , CM000663.2:g.40078765_40078766insAGA GRCh38
NC_000001.10:g.40544437_40544438insAGA , CM000663.1:g.40544437_40544438insAGA GRCh37
NC_000001.9:g.40317024_40317025insAGA NCBI36
NG_009192.1:g.23705_23706insTCT , LRG_690:g.23705_23706insTCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.625-108_625-107insTCT ENSP00000394863.4:n.625-108_625-107insTCT
ENST00000439754.6:c.628-108_628-107insTCT ENSP00000403207.2:n.628-108_628-107insTCT
ENST00000449045.7:c.319-108_319-107insTCT ENSP00000392293.2:n.319-108_319-107insTCT
ENST00000527311.7:c.397-108_397-107insTCT ENSP00000436695.3:n.397-108_397-107insTCT
ENST00000530076.6:c.-30-108_-30-107insTCT ENSP00000434007.1:n.-30-108_-30-107insTCT
ENST00000530704.6:c.*251-108_*251-107insTCT ENSP00000431655.1:n.*251-108_*251-107insTCT
ENST00000641083.1:c.606-108_606-107insTCT
ENST00000641236.1:n.865-108_865-107insTCT
ENST00000641319.1:c.628-108_628-107insTCT ENSP00000493128.1:n.628-108_628-107insTCT
ENST00000641381.1:c.149-1853_149-1852insTCT
ENST00000641471.1:c.715-108_715-107insTCT ENSP00000493146.1:n.715-108_715-107insTCT
ENST00000641691.1:c.*480-108_*480-107insTCT ENSP00000492910.1:n.*480-108_*480-107insTCT
ENST00000641924.1:c.*57-108_*57-107insTCT ENSP00000493063.1:n.*57-108_*57-107insTCT
ENST00000642050.2:c.628-108_628-107insTCT MANE Select ENSP00000493153.1:n.628-108_628-107insTCT
ENST00000372775.2:n.24+46_24+47insTCT
ENST00000372779.8:c.715-108_715-107insTCT ENSP00000361865.4:n.715-108_715-107insTCT
ENST00000433473.7:c.628-108_628-107insTCT ENSP00000394863.3:n.628-108_628-107insTCT
ENST00000439754.5:c.313-108_313-107insTCT ENSP00000403207.1:n.313-108_313-107insTCT
ENST00000449045.6:c.319-108_319-107insTCT ENSP00000392293.2:n.319-108_319-107insTCT
ENST00000527311.6:c.403-108_403-107insTCT ENSP00000436695.2:n.403-108_403-107insTCT
ENST00000529905.5:c.628-108_628-107insTCT ENSP00000432053.1:n.628-108_628-107insTCT
ENST00000530076.5:c.-30-108_-30-107insTCT ENSP00000434007.1:n.-30-108_-30-107insTCT
ENST00000530704.5:c.*251-108_*251-107insTCT ENSP00000431655.1:n.*251-108_*251-107insTCT
NM_000310.3:c.628-108_628-107insTCT , LRG_690t1:c.628-108_628-107insTCT NP_000301.1:n.628-108_628-107insTCT
NM_001142604.1:c.319-108_319-107insTCT NP_001136076.1:n.319-108_319-107insTCT
XM_005271008.1:c.628-108_628-107insTCT XP_005271065.1:n.628-108_628-107insTCT
NM_001363695.1:c.628-108_628-107insTCT NP_001350624.1:n.628-108_628-107insTCT
NM_000310.4:c.628-108_628-107insTCT MANE Select NP_000301.1:n.628-108_628-107insTCT
NM_001142604.2:c.319-108_319-107insTCT NP_001136076.1:n.319-108_319-107insTCT
NM_001363695.2:c.628-108_628-107insTCT NP_001350624.1:n.628-108_628-107insTCT