Canonical Allele Identifier: CA2586966435

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092060_40092061del , CM000663.2:g.40092060_40092061del	GRCh38
NC_000001.10:g.40557732_40557733del , CM000663.1:g.40557732_40557733del	GRCh37
NC_000001.9:g.40330319_40330320del	NCBI36
NG_009192.1:g.10410_10411del , LRG_690:g.10410_10411del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*182_*183del	ENSP00000361865.5:n.*182_*183del
ENST00000433473.8:c.343_344del	ENSP00000394863.4:p.Gln115GlyfsTer?
ENST00000439754.6:c.346_347del	ENSP00000403207.2:p.Gln116GlyfsTer?
ENST00000449045.7:c.125-2549_125-2548del	ENSP00000392293.2:n.125-2549_125-2548del
ENST00000526547.2:c.626_627del
ENST00000527311.7:c.234+337_234+338del	ENSP00000436695.3:n.234+337_234+338del
ENST00000530704.6:c.346_347del	ENSP00000431655.1:p.Gln116GlyfsTer?
ENST00000641083.1:c.324_325del
ENST00000641236.1:n.583_584del
ENST00000641319.1:c.346_347del	ENSP00000493128.1:p.Gln116GlyfsTer?
ENST00000641471.1:c.433_434del	ENSP00000493146.1:p.Gln145GlyfsTer?
ENST00000641548.1:c.*198_*199del	ENSP00000492984.1:n.*198_*199del
ENST00000641691.1:c.*198_*199del	ENSP00000492910.1:n.*198_*199del
ENST00000641924.1:c.124+5054_124+5055del	ENSP00000493063.1:n.124+5054_124+5055del
ENST00000642050.2:c.346_347del MANE Select	ENSP00000493153.1:p.Gln116GlyfsTer?
ENST00000372779.8:c.433_434del	ENSP00000361865.4:p.Gln145GlyfsTer?
ENST00000433473.7:c.346_347del	ENSP00000394863.3:p.Gln116GlyfsTer?
ENST00000439754.5:c.31_32del	ENSP00000403207.1:p.Gln11GlyfsTer?
ENST00000449045.6:c.125-2549_125-2548del	ENSP00000392293.2:n.125-2549_125-2548del
ENST00000526547.1:c.196_197del	ENSP00000436481.1:p.Gln66GlyfsTer?
ENST00000527311.6:c.125-4_125-3del	ENSP00000436695.2:n.125-4_125-3del
ENST00000529905.5:c.346_347del	ENSP00000432053.1:p.Gln116GlyfsTer?
ENST00000530704.5:c.346_347del	ENSP00000431655.1:p.Gln116GlyfsTer?
NM_000310.3:c.346_347del , LRG_690t1:c.346_347del	NP_000301.1:p.Gln116GlyfsTer?
NM_001142604.1:c.125-2549_125-2548del	NP_001136076.1:n.125-2549_125-2548del
XM_005271008.1:c.346_347del	XP_005271065.1:p.Gln116GlyfsTer?
NM_001363695.1:c.346_347del	NP_001350624.1:p.Gln116GlyfsTer?
NM_000310.4:c.346_347del MANE Select	NP_000301.1:p.Gln116GlyfsTer?
NM_001142604.2:c.125-2549_125-2548del	NP_001136076.1:n.125-2549_125-2548del
NM_001363695.2:c.346_347del	NP_001350624.1:p.Gln116GlyfsTer?