Canonical Allele Identifier: CA2743276770

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078727_40078728insACTC , CM000663.2:g.40078727_40078728insACTC	GRCh38
NC_000001.10:g.40544399_40544400insACTC , CM000663.1:g.40544399_40544400insACTC	GRCh37
NC_000001.9:g.40316986_40316987insACTC	NCBI36
NG_009192.1:g.23743_23744insGAGT , LRG_690:g.23743_23744insGAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-70_625-69insGAGT	ENSP00000394863.4:n.625-70_625-69insGAGT
ENST00000439754.6:c.628-70_628-69insGAGT	ENSP00000403207.2:n.628-70_628-69insGAGT
ENST00000449045.7:c.319-70_319-69insGAGT	ENSP00000392293.2:n.319-70_319-69insGAGT
ENST00000527311.7:c.397-70_397-69insGAGT	ENSP00000436695.3:n.397-70_397-69insGAGT
ENST00000530076.6:c.-30-70_-30-69insGAGT	ENSP00000434007.1:n.-30-70_-30-69insGAGT
ENST00000530704.6:c.*251-70_*251-69insGAGT	ENSP00000431655.1:n.*251-70_*251-69insGAGT
ENST00000641083.1:c.606-70_606-69insGAGT
ENST00000641236.1:n.865-70_865-69insGAGT
ENST00000641319.1:c.628-70_628-69insGAGT	ENSP00000493128.1:n.628-70_628-69insGAGT
ENST00000641381.1:c.149-1815_149-1814insGAGT
ENST00000641471.1:c.715-70_715-69insGAGT	ENSP00000493146.1:n.715-70_715-69insGAGT
ENST00000641691.1:c.*480-70_*480-69insGAGT	ENSP00000492910.1:n.*480-70_*480-69insGAGT
ENST00000641924.1:c.*57-70_*57-69insGAGT	ENSP00000493063.1:n.*57-70_*57-69insGAGT
ENST00000642050.2:c.628-70_628-69insGAGT MANE Select	ENSP00000493153.1:n.628-70_628-69insGAGT
ENST00000372775.2:n.25-70_25-69insGAGT
ENST00000372779.8:c.715-70_715-69insGAGT	ENSP00000361865.4:n.715-70_715-69insGAGT
ENST00000433473.7:c.628-70_628-69insGAGT	ENSP00000394863.3:n.628-70_628-69insGAGT
ENST00000439754.5:c.313-70_313-69insGAGT	ENSP00000403207.1:n.313-70_313-69insGAGT
ENST00000449045.6:c.319-70_319-69insGAGT	ENSP00000392293.2:n.319-70_319-69insGAGT
ENST00000527311.6:c.403-70_403-69insGAGT	ENSP00000436695.2:n.403-70_403-69insGAGT
ENST00000529905.5:c.628-70_628-69insGAGT	ENSP00000432053.1:n.628-70_628-69insGAGT
ENST00000530076.5:c.-30-70_-30-69insGAGT	ENSP00000434007.1:n.-30-70_-30-69insGAGT
ENST00000530704.5:c.*251-70_*251-69insGAGT	ENSP00000431655.1:n.*251-70_*251-69insGAGT
NM_000310.3:c.628-70_628-69insGAGT , LRG_690t1:c.628-70_628-69insGAGT	NP_000301.1:n.628-70_628-69insGAGT
NM_001142604.1:c.319-70_319-69insGAGT	NP_001136076.1:n.319-70_319-69insGAGT
XM_005271008.1:c.628-70_628-69insGAGT	XP_005271065.1:n.628-70_628-69insGAGT
NM_001363695.1:c.628-70_628-69insGAGT	NP_001350624.1:n.628-70_628-69insGAGT
NM_000310.4:c.628-70_628-69insGAGT MANE Select	NP_000301.1:n.628-70_628-69insGAGT
NM_001142604.2:c.319-70_319-69insGAGT	NP_001136076.1:n.319-70_319-69insGAGT
NM_001363695.2:c.628-70_628-69insGAGT	NP_001350624.1:n.628-70_628-69insGAGT