Canonical Allele Identifier: CA1143496128

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078902_40078904delinsATA , CM000663.2:g.40078902_40078904delinsATA	GRCh38
NC_000001.10:g.40544574_40544576delinsATA , CM000663.1:g.40544574_40544576delinsATA	GRCh37
NC_000001.9:g.40317161_40317163delinsATA	NCBI36
NG_009192.1:g.23567_23569delinsTAT , LRG_690:g.23567_23569delinsTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-246_625-244delinsTAT	ENSP00000394863.4:n.625-246_625-244delinsTAT
ENST00000439754.6:c.628-246_628-244delinsTAT	ENSP00000403207.2:n.628-246_628-244delinsTAT
ENST00000449045.7:c.319-246_319-244delinsTAT	ENSP00000392293.2:n.319-246_319-244delinsTAT
ENST00000527311.7:c.397-246_397-244delinsTAT	ENSP00000436695.3:n.397-246_397-244delinsTAT
ENST00000530076.6:c.-30-246_-30-244delinsTAT	ENSP00000434007.1:n.-30-246_-30-244delinsTAT
ENST00000530704.6:c.*251-246_*251-244delinsTAT	ENSP00000431655.1:n.*251-246_*251-244delinsTAT
ENST00000641083.1:c.606-246_606-244delinsTAT
ENST00000641236.1:n.865-246_865-244delinsTAT
ENST00000641319.1:c.628-246_628-244delinsTAT	ENSP00000493128.1:n.628-246_628-244delinsTAT
ENST00000641381.1:c.149-1991_149-1989delinsTAT
ENST00000641471.1:c.715-246_715-244delinsTAT	ENSP00000493146.1:n.715-246_715-244delinsTAT
ENST00000641691.1:c.*480-246_*480-244delinsTAT	ENSP00000492910.1:n.*480-246_*480-244delinsTAT
ENST00000641924.1:c.*57-246_*57-244delinsTAT	ENSP00000493063.1:n.*57-246_*57-244delinsTAT
ENST00000642050.2:c.628-246_628-244delinsTAT MANE Select	ENSP00000493153.1:n.628-246_628-244delinsTAT
ENST00000372779.8:c.715-246_715-244delinsTAT	ENSP00000361865.4:n.715-246_715-244delinsTAT
ENST00000433473.7:c.628-246_628-244delinsTAT	ENSP00000394863.3:n.628-246_628-244delinsTAT
ENST00000439754.5:c.313-246_313-244delinsTAT	ENSP00000403207.1:n.313-246_313-244delinsTAT
ENST00000449045.6:c.319-246_319-244delinsTAT	ENSP00000392293.2:n.319-246_319-244delinsTAT
ENST00000527311.6:c.403-246_403-244delinsTAT	ENSP00000436695.2:n.403-246_403-244delinsTAT
ENST00000529905.5:c.628-246_628-244delinsTAT	ENSP00000432053.1:n.628-246_628-244delinsTAT
ENST00000530076.5:c.-30-246_-30-244delinsTAT	ENSP00000434007.1:n.-30-246_-30-244delinsTAT
ENST00000530704.5:c.*251-246_*251-244delinsTAT	ENSP00000431655.1:n.*251-246_*251-244delinsTAT
NM_000310.3:c.628-246_628-244delinsTAT , LRG_690t1:c.628-246_628-244delinsTAT	NP_000301.1:n.628-246_628-244delinsTAT
NM_001142604.1:c.319-246_319-244delinsTAT	NP_001136076.1:n.319-246_319-244delinsTAT
XM_005271008.1:c.628-246_628-244delinsTAT	XP_005271065.1:n.628-246_628-244delinsTAT
NM_001363695.1:c.628-246_628-244delinsTAT	NP_001350624.1:n.628-246_628-244delinsTAT
NM_000310.4:c.628-246_628-244delinsTAT MANE Select	NP_000301.1:n.628-246_628-244delinsTAT
NM_001142604.2:c.319-246_319-244delinsTAT	NP_001136076.1:n.319-246_319-244delinsTAT
NM_001363695.2:c.628-246_628-244delinsTAT	NP_001350624.1:n.628-246_628-244delinsTAT