Canonical Allele Identifier: CA2743276078

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074258_40074264del , CM000663.2:g.40074258_40074264del	GRCh38
NC_000001.10:g.40539930_40539936del , CM000663.1:g.40539930_40539936del	GRCh37
NC_000001.9:g.40312517_40312523del	NCBI36
NG_009192.1:g.28208_28214del , LRG_690:g.28208_28214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796-80_796-74del	ENSP00000394863.4:n.796-80_796-74del
ENST00000439754.6:c.727-80_727-74del	ENSP00000403207.2:n.727-80_727-74del
ENST00000449045.7:c.490-80_490-74del	ENSP00000392293.2:n.490-80_490-74del
ENST00000527311.7:c.568-80_568-74del	ENSP00000436695.3:n.568-80_568-74del
ENST00000530076.6:c.142-80_142-74del	ENSP00000434007.1:n.142-80_142-74del
ENST00000530704.6:c.*422-80_*422-74del	ENSP00000431655.1:n.*422-80_*422-74del
ENST00000641083.1:c.889-80_889-74del
ENST00000641236.1:n.1036-80_1036-74del
ENST00000641319.1:c.*9-80_*9-74del	ENSP00000493128.1:n.*9-80_*9-74del
ENST00000641381.1:c.221-80_221-74del
ENST00000641471.1:c.886-80_886-74del	ENSP00000493146.1:n.886-80_886-74del
ENST00000641691.1:c.*651-80_*651-74del	ENSP00000492910.1:n.*651-80_*651-74del
ENST00000641924.1:c.*228-80_*228-74del	ENSP00000493063.1:n.*228-80_*228-74del
ENST00000642050.2:c.799-80_799-74del MANE Select	ENSP00000493153.1:n.799-80_799-74del
ENST00000372775.2:n.196-80_196-74del
ENST00000433473.7:c.799-80_799-74del	ENSP00000394863.3:n.799-80_799-74del
ENST00000439754.5:c.412-80_412-74del	ENSP00000403207.1:n.412-80_412-74del
ENST00000449045.6:c.490-80_490-74del	ENSP00000392293.2:n.490-80_490-74del
ENST00000527311.6:c.574-80_574-74del	ENSP00000436695.2:n.574-80_574-74del
ENST00000529905.5:c.799-80_799-74del	ENSP00000432053.1:n.799-80_799-74del
ENST00000530076.5:c.142-80_142-74del	ENSP00000434007.1:n.142-80_142-74del
ENST00000530704.5:c.*422-80_*422-74del	ENSP00000431655.1:n.*422-80_*422-74del
NM_000310.3:c.799-80_799-74del , LRG_690t1:c.799-80_799-74del	NP_000301.1:n.799-80_799-74del
NM_001142604.1:c.490-80_490-74del	NP_001136076.1:n.490-80_490-74del
XM_005271008.1:c.727-80_727-74del	XP_005271065.1:n.727-80_727-74del
NM_001363695.1:c.727-80_727-74del	NP_001350624.1:n.727-80_727-74del
NM_000310.4:c.799-80_799-74del MANE Select	NP_000301.1:n.799-80_799-74del
NM_001142604.2:c.490-80_490-74del	NP_001136076.1:n.490-80_490-74del
NM_001363695.2:c.727-80_727-74del	NP_001350624.1:n.727-80_727-74del