Canonical Allele Identifier: CA1164245669

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078885_40078887delinsAGT , CM000663.2:g.40078885_40078887delinsAGT	GRCh38
NC_000001.10:g.40544557_40544559delinsAGT , CM000663.1:g.40544557_40544559delinsAGT	GRCh37
NC_000001.9:g.40317144_40317146delinsAGT	NCBI36
NG_009192.1:g.23584_23586delinsACT , LRG_690:g.23584_23586delinsACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-229_625-227delinsACT	ENSP00000394863.4:n.625-229_625-227delinsACT
ENST00000439754.6:c.628-229_628-227delinsACT	ENSP00000403207.2:n.628-229_628-227delinsACT
ENST00000449045.7:c.319-229_319-227delinsACT	ENSP00000392293.2:n.319-229_319-227delinsACT
ENST00000527311.7:c.397-229_397-227delinsACT	ENSP00000436695.3:n.397-229_397-227delinsACT
ENST00000530076.6:c.-30-229_-30-227delinsACT	ENSP00000434007.1:n.-30-229_-30-227delinsACT
ENST00000530704.6:c.*251-229_*251-227delinsACT	ENSP00000431655.1:n.*251-229_*251-227delinsACT
ENST00000641083.1:c.606-229_606-227delinsACT
ENST00000641236.1:n.865-229_865-227delinsACT
ENST00000641319.1:c.628-229_628-227delinsACT	ENSP00000493128.1:n.628-229_628-227delinsACT
ENST00000641381.1:c.149-1974_149-1972delinsACT
ENST00000641471.1:c.715-229_715-227delinsACT	ENSP00000493146.1:n.715-229_715-227delinsACT
ENST00000641691.1:c.*480-229_*480-227delinsACT	ENSP00000492910.1:n.*480-229_*480-227delinsACT
ENST00000641924.1:c.*57-229_*57-227delinsACT	ENSP00000493063.1:n.*57-229_*57-227delinsACT
ENST00000642050.2:c.628-229_628-227delinsACT MANE Select	ENSP00000493153.1:n.628-229_628-227delinsACT
ENST00000372779.8:c.715-229_715-227delinsACT	ENSP00000361865.4:n.715-229_715-227delinsACT
ENST00000433473.7:c.628-229_628-227delinsACT	ENSP00000394863.3:n.628-229_628-227delinsACT
ENST00000439754.5:c.313-229_313-227delinsACT	ENSP00000403207.1:n.313-229_313-227delinsACT
ENST00000449045.6:c.319-229_319-227delinsACT	ENSP00000392293.2:n.319-229_319-227delinsACT
ENST00000527311.6:c.403-229_403-227delinsACT	ENSP00000436695.2:n.403-229_403-227delinsACT
ENST00000529905.5:c.628-229_628-227delinsACT	ENSP00000432053.1:n.628-229_628-227delinsACT
ENST00000530076.5:c.-30-229_-30-227delinsACT	ENSP00000434007.1:n.-30-229_-30-227delinsACT
ENST00000530704.5:c.*251-229_*251-227delinsACT	ENSP00000431655.1:n.*251-229_*251-227delinsACT
NM_000310.3:c.628-229_628-227delinsACT , LRG_690t1:c.628-229_628-227delinsACT	NP_000301.1:n.628-229_628-227delinsACT
NM_001142604.1:c.319-229_319-227delinsACT	NP_001136076.1:n.319-229_319-227delinsACT
XM_005271008.1:c.628-229_628-227delinsACT	XP_005271065.1:n.628-229_628-227delinsACT
NM_001363695.1:c.628-229_628-227delinsACT	NP_001350624.1:n.628-229_628-227delinsACT
NM_000310.4:c.628-229_628-227delinsACT MANE Select	NP_000301.1:n.628-229_628-227delinsACT
NM_001142604.2:c.319-229_319-227delinsACT	NP_001136076.1:n.319-229_319-227delinsACT
NM_001363695.2:c.628-229_628-227delinsACT	NP_001350624.1:n.628-229_628-227delinsACT