Canonical Allele Identifier: CA2743276892

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078769_40078775del , CM000663.2:g.40078769_40078775del	GRCh38
NC_000001.10:g.40544441_40544447del , CM000663.1:g.40544441_40544447del	GRCh37
NC_000001.9:g.40317028_40317034del	NCBI36
NG_009192.1:g.23696_23702del , LRG_690:g.23696_23702del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.625-117_625-111del	ENSP00000394863.4:n.625-117_625-111del
ENST00000439754.6:c.628-117_628-111del	ENSP00000403207.2:n.628-117_628-111del
ENST00000449045.7:c.319-117_319-111del	ENSP00000392293.2:n.319-117_319-111del
ENST00000527311.7:c.397-117_397-111del	ENSP00000436695.3:n.397-117_397-111del
ENST00000530076.6:c.-30-117_-30-111del	ENSP00000434007.1:n.-30-117_-30-111del
ENST00000530704.6:c.*251-117_*251-111del	ENSP00000431655.1:n.*251-117_*251-111del
ENST00000641083.1:c.606-117_606-111del
ENST00000641236.1:n.865-117_865-111del
ENST00000641319.1:c.628-117_628-111del	ENSP00000493128.1:n.628-117_628-111del
ENST00000641381.1:c.149-1862_149-1856del
ENST00000641471.1:c.715-117_715-111del	ENSP00000493146.1:n.715-117_715-111del
ENST00000641691.1:c.*480-117_*480-111del	ENSP00000492910.1:n.*480-117_*480-111del
ENST00000641924.1:c.*57-117_*57-111del	ENSP00000493063.1:n.*57-117_*57-111del
ENST00000642050.2:c.628-117_628-111del MANE Select	ENSP00000493153.1:n.628-117_628-111del
ENST00000372775.2:n.24+37_24+43del
ENST00000372779.8:c.715-117_715-111del	ENSP00000361865.4:n.715-117_715-111del
ENST00000433473.7:c.628-117_628-111del	ENSP00000394863.3:n.628-117_628-111del
ENST00000439754.5:c.313-117_313-111del	ENSP00000403207.1:n.313-117_313-111del
ENST00000449045.6:c.319-117_319-111del	ENSP00000392293.2:n.319-117_319-111del
ENST00000527311.6:c.403-117_403-111del	ENSP00000436695.2:n.403-117_403-111del
ENST00000529905.5:c.628-117_628-111del	ENSP00000432053.1:n.628-117_628-111del
ENST00000530076.5:c.-30-117_-30-111del	ENSP00000434007.1:n.-30-117_-30-111del
ENST00000530704.5:c.*251-117_*251-111del	ENSP00000431655.1:n.*251-117_*251-111del
NM_000310.3:c.628-117_628-111del , LRG_690t1:c.628-117_628-111del	NP_000301.1:n.628-117_628-111del
NM_001142604.1:c.319-117_319-111del	NP_001136076.1:n.319-117_319-111del
XM_005271008.1:c.628-117_628-111del	XP_005271065.1:n.628-117_628-111del
NM_001363695.1:c.628-117_628-111del	NP_001350624.1:n.628-117_628-111del
NM_000310.4:c.628-117_628-111del MANE Select	NP_000301.1:n.628-117_628-111del
NM_001142604.2:c.319-117_319-111del	NP_001136076.1:n.319-117_319-111del
NM_001363695.2:c.628-117_628-111del	NP_001350624.1:n.628-117_628-111del