Canonical Allele Identifier: CA1143431841

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078898_40078900delinsGGG , CM000663.2:g.40078898_40078900delinsGGG	GRCh38
NC_000001.10:g.40544570_40544572delinsGGG , CM000663.1:g.40544570_40544572delinsGGG	GRCh37
NC_000001.9:g.40317157_40317159delinsGGG	NCBI36
NG_009192.1:g.23571_23573delinsCCC , LRG_690:g.23571_23573delinsCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-242_625-240delinsCCC	ENSP00000394863.4:n.625-242_625-240delinsCCC
ENST00000439754.6:c.628-242_628-240delinsCCC	ENSP00000403207.2:n.628-242_628-240delinsCCC
ENST00000449045.7:c.319-242_319-240delinsCCC	ENSP00000392293.2:n.319-242_319-240delinsCCC
ENST00000527311.7:c.397-242_397-240delinsCCC	ENSP00000436695.3:n.397-242_397-240delinsCCC
ENST00000530076.6:c.-30-242_-30-240delinsCCC	ENSP00000434007.1:n.-30-242_-30-240delinsCCC
ENST00000530704.6:c.*251-242_*251-240delinsCCC	ENSP00000431655.1:n.*251-242_*251-240delinsCCC
ENST00000641083.1:c.606-242_606-240delinsCCC
ENST00000641236.1:n.865-242_865-240delinsCCC
ENST00000641319.1:c.628-242_628-240delinsCCC	ENSP00000493128.1:n.628-242_628-240delinsCCC
ENST00000641381.1:c.149-1987_149-1985delinsCCC
ENST00000641471.1:c.715-242_715-240delinsCCC	ENSP00000493146.1:n.715-242_715-240delinsCCC
ENST00000641691.1:c.*480-242_*480-240delinsCCC	ENSP00000492910.1:n.*480-242_*480-240delinsCCC
ENST00000641924.1:c.*57-242_*57-240delinsCCC	ENSP00000493063.1:n.*57-242_*57-240delinsCCC
ENST00000642050.2:c.628-242_628-240delinsCCC MANE Select	ENSP00000493153.1:n.628-242_628-240delinsCCC
ENST00000372779.8:c.715-242_715-240delinsCCC	ENSP00000361865.4:n.715-242_715-240delinsCCC
ENST00000433473.7:c.628-242_628-240delinsCCC	ENSP00000394863.3:n.628-242_628-240delinsCCC
ENST00000439754.5:c.313-242_313-240delinsCCC	ENSP00000403207.1:n.313-242_313-240delinsCCC
ENST00000449045.6:c.319-242_319-240delinsCCC	ENSP00000392293.2:n.319-242_319-240delinsCCC
ENST00000527311.6:c.403-242_403-240delinsCCC	ENSP00000436695.2:n.403-242_403-240delinsCCC
ENST00000529905.5:c.628-242_628-240delinsCCC	ENSP00000432053.1:n.628-242_628-240delinsCCC
ENST00000530076.5:c.-30-242_-30-240delinsCCC	ENSP00000434007.1:n.-30-242_-30-240delinsCCC
ENST00000530704.5:c.*251-242_*251-240delinsCCC	ENSP00000431655.1:n.*251-242_*251-240delinsCCC
NM_000310.3:c.628-242_628-240delinsCCC , LRG_690t1:c.628-242_628-240delinsCCC	NP_000301.1:n.628-242_628-240delinsCCC
NM_001142604.1:c.319-242_319-240delinsCCC	NP_001136076.1:n.319-242_319-240delinsCCC
XM_005271008.1:c.628-242_628-240delinsCCC	XP_005271065.1:n.628-242_628-240delinsCCC
NM_001363695.1:c.628-242_628-240delinsCCC	NP_001350624.1:n.628-242_628-240delinsCCC
NM_000310.4:c.628-242_628-240delinsCCC MANE Select	NP_000301.1:n.628-242_628-240delinsCCC
NM_001142604.2:c.319-242_319-240delinsCCC	NP_001136076.1:n.319-242_319-240delinsCCC
NM_001363695.2:c.628-242_628-240delinsCCC	NP_001350624.1:n.628-242_628-240delinsCCC