Canonical Allele Identifier: CA2743276748
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078720_40078721insAGT , CM000663.2:g.40078720_40078721insAGT GRCh38
NC_000001.10:g.40544392_40544393insAGT , CM000663.1:g.40544392_40544393insAGT GRCh37
NC_000001.9:g.40316979_40316980insAGT NCBI36
NG_009192.1:g.23750_23751insACT , LRG_690:g.23750_23751insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000433473.8:c.625-63_625-62insACT ENSP00000394863.4:n.625-63_625-62insACT
ENST00000439754.6:c.628-63_628-62insACT ENSP00000403207.2:n.628-63_628-62insACT
ENST00000449045.7:c.319-63_319-62insACT ENSP00000392293.2:n.319-63_319-62insACT
ENST00000527311.7:c.397-63_397-62insACT ENSP00000436695.3:n.397-63_397-62insACT
ENST00000530076.6:c.-30-63_-30-62insACT ENSP00000434007.1:n.-30-63_-30-62insACT
ENST00000530704.6:c.*251-63_*251-62insACT ENSP00000431655.1:n.*251-63_*251-62insACT
ENST00000641083.1:c.606-63_606-62insACT
ENST00000641236.1:n.865-63_865-62insACT
ENST00000641319.1:c.628-63_628-62insACT ENSP00000493128.1:n.628-63_628-62insACT
ENST00000641381.1:c.149-1808_149-1807insACT
ENST00000641471.1:c.715-63_715-62insACT ENSP00000493146.1:n.715-63_715-62insACT
ENST00000641691.1:c.*480-63_*480-62insACT ENSP00000492910.1:n.*480-63_*480-62insACT
ENST00000641924.1:c.*57-63_*57-62insACT ENSP00000493063.1:n.*57-63_*57-62insACT
ENST00000642050.2:c.628-63_628-62insACT MANE Select ENSP00000493153.1:n.628-63_628-62insACT
ENST00000372775.2:n.25-63_25-62insACT
ENST00000372779.8:c.715-63_715-62insACT ENSP00000361865.4:n.715-63_715-62insACT
ENST00000433473.7:c.628-63_628-62insACT ENSP00000394863.3:n.628-63_628-62insACT
ENST00000439754.5:c.313-63_313-62insACT ENSP00000403207.1:n.313-63_313-62insACT
ENST00000449045.6:c.319-63_319-62insACT ENSP00000392293.2:n.319-63_319-62insACT
ENST00000527311.6:c.403-63_403-62insACT ENSP00000436695.2:n.403-63_403-62insACT
ENST00000529905.5:c.628-63_628-62insACT ENSP00000432053.1:n.628-63_628-62insACT
ENST00000530076.5:c.-30-63_-30-62insACT ENSP00000434007.1:n.-30-63_-30-62insACT
ENST00000530704.5:c.*251-63_*251-62insACT ENSP00000431655.1:n.*251-63_*251-62insACT
NM_000310.3:c.628-63_628-62insACT , LRG_690t1:c.628-63_628-62insACT NP_000301.1:n.628-63_628-62insACT
NM_001142604.1:c.319-63_319-62insACT NP_001136076.1:n.319-63_319-62insACT
XM_005271008.1:c.628-63_628-62insACT XP_005271065.1:n.628-63_628-62insACT
NM_001363695.1:c.628-63_628-62insACT NP_001350624.1:n.628-63_628-62insACT
NM_000310.4:c.628-63_628-62insACT MANE Select NP_000301.1:n.628-63_628-62insACT
NM_001142604.2:c.319-63_319-62insACT NP_001136076.1:n.319-63_319-62insACT
NM_001363695.2:c.628-63_628-62insACT NP_001350624.1:n.628-63_628-62insACT