Canonical Allele Identifier: CA2499214708

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092144del , CM000663.2:g.40092144del	GRCh38
NC_000001.10:g.40557816del , CM000663.1:g.40557816del	GRCh37
NC_000001.9:g.40330403del	NCBI36
NG_009192.1:g.10327del , LRG_690:g.10327del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*99del	ENSP00000361865.5:n.*99del
ENST00000433473.8:c.260del	ENSP00000394863.4:p.Val87AlafsTer5
ENST00000439754.6:c.263del	ENSP00000403207.2:p.Val88AlafsTer5
ENST00000449045.7:c.125-2632del	ENSP00000392293.2:n.125-2632del
ENST00000526547.2:c.543del
ENST00000527311.7:c.234+254del	ENSP00000436695.3:n.234+254del
ENST00000530704.6:c.263del	ENSP00000431655.1:p.Val88AlafsTer5
ENST00000641083.1:c.241del
ENST00000641236.1:n.500del
ENST00000641319.1:c.263del	ENSP00000493128.1:p.Val88AlafsTer5
ENST00000641471.1:c.350del	ENSP00000493146.1:p.Val117AlafsTer5
ENST00000641548.1:c.*115del	ENSP00000492984.1:n.*115del
ENST00000641691.1:c.*115del	ENSP00000492910.1:n.*115del
ENST00000641924.1:c.124+4971del	ENSP00000493063.1:n.124+4971del
ENST00000642050.2:c.263del MANE Select	ENSP00000493153.1:p.Val88AlafsTer5
ENST00000372779.8:c.350del	ENSP00000361865.4:p.Val117AlafsTer5
ENST00000433473.7:c.263del	ENSP00000394863.3:p.Val88AlafsTer5
ENST00000449045.6:c.125-2632del	ENSP00000392293.2:n.125-2632del
ENST00000526547.1:c.113del	ENSP00000436481.1:p.Val38AlafsTer5
ENST00000527311.6:c.125-87del	ENSP00000436695.2:n.125-87del
ENST00000529905.5:c.263del	ENSP00000432053.1:p.Val88AlafsTer5
ENST00000530704.5:c.263del	ENSP00000431655.1:p.Val88AlafsTer5
NM_000310.3:c.263del , LRG_690t1:c.263del	NP_000301.1:p.Val88AlafsTer5
NM_001142604.1:c.125-2632del	NP_001136076.1:n.125-2632del
XM_005271008.1:c.263del	XP_005271065.1:p.Val88AlafsTer5
NM_001363695.1:c.263del	NP_001350624.1:p.Val88AlafsTer5
NM_000310.4:c.263del MANE Select	NP_000301.1:p.Val88AlafsTer5
NM_001142604.2:c.125-2632del	NP_001136076.1:n.125-2632del
NM_001363695.2:c.263del	NP_001350624.1:p.Val88AlafsTer5