Canonical Allele Identifier: CA1164252129

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092060_40092061delinsTG , CM000663.2:g.40092060_40092061delinsTG	GRCh38
NC_000001.10:g.40557732_40557733delinsTG , CM000663.1:g.40557732_40557733delinsTG	GRCh37
NC_000001.9:g.40330319_40330320delinsTG	NCBI36
NG_009192.1:g.10410_10411delinsCA , LRG_690:g.10410_10411delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*182_*183delinsCA	ENSP00000361865.5:n.*182_*183delinsCA
ENST00000433473.8:c.343_344delinsCA	ENSP00000394863.4:p.Gln115=
ENST00000439754.6:c.346_347delinsCA	ENSP00000403207.2:p.Gln116=
ENST00000449045.7:c.125-2549_125-2548delinsCA	ENSP00000392293.2:n.125-2549_125-2548delinsCA
ENST00000526547.2:c.626_627delinsCA
ENST00000527311.7:c.234+337_234+338delinsCA	ENSP00000436695.3:n.234+337_234+338delinsCA
ENST00000530704.6:c.346_347delinsCA	ENSP00000431655.1:p.Gln116=
ENST00000641083.1:c.324_325delinsCA
ENST00000641236.1:n.583_584delinsCA
ENST00000641319.1:c.346_347delinsCA	ENSP00000493128.1:p.Gln116=
ENST00000641471.1:c.433_434delinsCA	ENSP00000493146.1:p.Gln145=
ENST00000641548.1:c.*198_*199delinsCA	ENSP00000492984.1:n.*198_*199delinsCA
ENST00000641691.1:c.*198_*199delinsCA	ENSP00000492910.1:n.*198_*199delinsCA
ENST00000641924.1:c.124+5054_124+5055delinsCA	ENSP00000493063.1:n.124+5054_124+5055delinsCA
ENST00000642050.2:c.346_347delinsCA MANE Select	ENSP00000493153.1:p.Gln116=
ENST00000372779.8:c.433_434delinsCA	ENSP00000361865.4:p.Gln145=
ENST00000433473.7:c.346_347delinsCA	ENSP00000394863.3:p.Gln116=
ENST00000439754.5:c.31_32delinsCA	ENSP00000403207.1:p.Gln11=
ENST00000449045.6:c.125-2549_125-2548delinsCA	ENSP00000392293.2:n.125-2549_125-2548delinsCA
ENST00000526547.1:c.196_197delinsCA	ENSP00000436481.1:p.Gln66=
ENST00000527311.6:c.125-4_125-3delinsCA	ENSP00000436695.2:n.125-4_125-3delinsCA
ENST00000529905.5:c.346_347delinsCA	ENSP00000432053.1:p.Gln116=
ENST00000530704.5:c.346_347delinsCA	ENSP00000431655.1:p.Gln116=
NM_000310.3:c.346_347delinsCA , LRG_690t1:c.346_347delinsCA	NP_000301.1:p.Gln116=
NM_001142604.1:c.125-2549_125-2548delinsCA	NP_001136076.1:n.125-2549_125-2548delinsCA
XM_005271008.1:c.346_347delinsCA	XP_005271065.1:p.Gln116=
NM_001363695.1:c.346_347delinsCA	NP_001350624.1:p.Gln116=
NM_000310.4:c.346_347delinsCA MANE Select	NP_000301.1:p.Gln116=
NM_001142604.2:c.125-2549_125-2548delinsCA	NP_001136076.1:n.125-2549_125-2548delinsCA
NM_001363695.2:c.346_347delinsCA	NP_001350624.1:p.Gln116=