Canonical Allele Identifier: CA2645092267

Gene: PPT1

Linked Data

• gnomAD v4: 1-40091357-AT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091359del , CM000663.2:g.40091359del	GRCh38
NC_000001.10:g.40557031del , CM000663.1:g.40557031del	GRCh37
NC_000001.9:g.40329618del	NCBI36
NG_009192.1:g.11113del , LRG_690:g.11113del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*240del	ENSP00000361865.5:n.*240del
ENST00000433473.8:c.401del	ENSP00000394863.4:p.Asn134IlefsTer2
ENST00000439754.6:c.404del	ENSP00000403207.2:p.Asn135IlefsTer2
ENST00000449045.7:c.125-1846del	ENSP00000392293.2:n.125-1846del
ENST00000526547.2:c.684del
ENST00000527311.7:c.276del	ENSP00000436695.3:p.Gln92HisfsTer22
ENST00000530704.6:c.404del	ENSP00000431655.1:p.Asn135IlefsTer2
ENST00000641083.1:c.382del
ENST00000641236.1:n.641del
ENST00000641319.1:c.404del	ENSP00000493128.1:p.Asn135IlefsTer2
ENST00000641381.1:c.16del
ENST00000641471.1:c.491del	ENSP00000493146.1:p.Asn164IlefsTer2
ENST00000641548.1:c.*256del	ENSP00000492984.1:n.*256del
ENST00000641691.1:c.*256del	ENSP00000492910.1:n.*256del
ENST00000641924.1:c.124+5757del	ENSP00000493063.1:n.124+5757del
ENST00000642050.2:c.404del MANE Select	ENSP00000493153.1:p.Asn135IlefsTer2
ENST00000372779.8:c.491del	ENSP00000361865.4:p.Asn164IlefsTer2
ENST00000433473.7:c.404del	ENSP00000394863.3:p.Asn135IlefsTer2
ENST00000439754.5:c.89del	ENSP00000403207.1:p.Asn30IlefsTer2
ENST00000449045.6:c.125-1846del	ENSP00000392293.2:n.125-1846del
ENST00000526547.1:c.254del	ENSP00000436481.1:p.Asn85IlefsTer2
ENST00000527311.6:c.179del	ENSP00000436695.2:p.Asn60IlefsTer2
ENST00000529905.5:c.404del	ENSP00000432053.1:p.Asn135IlefsTer2
ENST00000530704.5:c.404del	ENSP00000431655.1:p.Asn135IlefsTer2
NM_000310.3:c.404del , LRG_690t1:c.404del	NP_000301.1:p.Asn135IlefsTer2
NM_001142604.1:c.125-1846del	NP_001136076.1:n.125-1846del
XM_005271008.1:c.404del	XP_005271065.1:p.Asn135IlefsTer2
NM_001363695.1:c.404del	NP_001350624.1:p.Asn135IlefsTer2
NM_000310.4:c.404del MANE Select	NP_000301.1:p.Asn135IlefsTer2
NM_001142604.2:c.125-1846del	NP_001136076.1:n.125-1846del
NM_001363695.2:c.404del	NP_001350624.1:p.Asn135IlefsTer2