Canonical Allele Identifier: CA1144228745

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092457_40092458delinsCC , CM000663.2:g.40092457_40092458delinsCC	GRCh38
NC_000001.10:g.40558129_40558130delinsCC , CM000663.1:g.40558129_40558130delinsCC	GRCh37
NC_000001.9:g.40330716_40330717delinsCC	NCBI36
NG_009192.1:g.10013_10014delinsGG , LRG_690:g.10013_10014delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*10_*11delinsGG	ENSP00000361865.5:n.*10_*11delinsGG
ENST00000433473.8:c.171_172delinsGG	ENSP00000394863.4:p.Val57=
ENST00000439754.6:c.174_175delinsGG	ENSP00000403207.2:p.Val58=
ENST00000449045.7:c.125-2946_125-2945delinsGG	ENSP00000392293.2:n.125-2946_125-2945delinsGG
ENST00000526547.2:c.454_455delinsGG
ENST00000527311.7:c.174_175delinsGG	ENSP00000436695.3:p.Val58=
ENST00000530704.6:c.174_175delinsGG	ENSP00000431655.1:p.Val58=
ENST00000641083.1:c.152_153delinsGG
ENST00000641236.1:n.186_187delinsGG
ENST00000641319.1:c.174_175delinsGG	ENSP00000493128.1:p.Val58=
ENST00000641471.1:c.261_262delinsGG	ENSP00000493146.1:p.Val87=
ENST00000641548.1:c.*26_*27delinsGG	ENSP00000492984.1:n.*26_*27delinsGG
ENST00000641691.1:c.*26_*27delinsGG	ENSP00000492910.1:n.*26_*27delinsGG
ENST00000641924.1:c.124+4657_124+4658delinsGG	ENSP00000493063.1:n.124+4657_124+4658delinsGG
ENST00000642050.2:c.174_175delinsGG MANE Select	ENSP00000493153.1:p.Val58=
ENST00000372779.8:c.261_262delinsGG	ENSP00000361865.4:p.Val87=
ENST00000433473.7:c.174_175delinsGG	ENSP00000394863.3:p.Val58=
ENST00000449045.6:c.125-2946_125-2945delinsGG	ENSP00000392293.2:n.125-2946_125-2945delinsGG
ENST00000526547.1:c.24_25delinsGG	ENSP00000436481.1:p.Val8=
ENST00000527311.6:c.125-401_125-400delinsGG	ENSP00000436695.2:n.125-401_125-400delinsGG
ENST00000529905.5:c.174_175delinsGG	ENSP00000432053.1:p.Val58=
ENST00000530704.5:c.174_175delinsGG	ENSP00000431655.1:p.Val58=
NM_000310.3:c.174_175delinsGG , LRG_690t1:c.174_175delinsGG	NP_000301.1:p.Val58=
NM_001142604.1:c.125-2946_125-2945delinsGG	NP_001136076.1:n.125-2946_125-2945delinsGG
XM_005271008.1:c.174_175delinsGG	XP_005271065.1:p.Val58=
NM_001363695.1:c.174_175delinsGG	NP_001350624.1:p.Val58=
NM_000310.4:c.174_175delinsGG MANE Select	NP_000301.1:p.Val58=
NM_001142604.2:c.125-2946_125-2945delinsGG	NP_001136076.1:n.125-2946_125-2945delinsGG
NM_001363695.2:c.174_175delinsGG	NP_001350624.1:p.Val58=