Canonical Allele Identifier: CA1164252599

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092365_40092366delinsAC , CM000663.2:g.40092365_40092366delinsAC	GRCh38
NC_000001.10:g.40558037_40558038delinsAC , CM000663.1:g.40558037_40558038delinsAC	GRCh37
NC_000001.9:g.40330624_40330625delinsAC	NCBI36
NG_009192.1:g.10105_10106delinsGT , LRG_690:g.10105_10106delinsGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*70+32_*70+33delinsGT	ENSP00000361865.5:n.*70+32_*70+33delinsGT
ENST00000433473.8:c.231+32_231+33delinsGT	ENSP00000394863.4:n.231+32_231+33delinsGT
ENST00000439754.6:c.234+32_234+33delinsGT	ENSP00000403207.2:n.234+32_234+33delinsGT
ENST00000449045.7:c.125-2854_125-2853delinsGT	ENSP00000392293.2:n.125-2854_125-2853delinsGT
ENST00000526547.2:c.514+32_514+33delinsGT
ENST00000527311.7:c.234+32_234+33delinsGT	ENSP00000436695.3:n.234+32_234+33delinsGT
ENST00000530704.6:c.234+32_234+33delinsGT	ENSP00000431655.1:n.234+32_234+33delinsGT
ENST00000641083.1:c.212+32_212+33delinsGT
ENST00000641236.1:n.278_279delinsGT
ENST00000641319.1:c.234+32_234+33delinsGT	ENSP00000493128.1:n.234+32_234+33delinsGT
ENST00000641471.1:c.321+32_321+33delinsGT	ENSP00000493146.1:n.321+32_321+33delinsGT
ENST00000641548.1:c.*86+32_*86+33delinsGT	ENSP00000492984.1:n.*86+32_*86+33delinsGT
ENST00000641691.1:c.*86+32_*86+33delinsGT	ENSP00000492910.1:n.*86+32_*86+33delinsGT
ENST00000641924.1:c.124+4749_124+4750delinsGT	ENSP00000493063.1:n.124+4749_124+4750delinsGT
ENST00000642050.2:c.234+32_234+33delinsGT MANE Select	ENSP00000493153.1:n.234+32_234+33delinsGT
ENST00000372779.8:c.321+32_321+33delinsGT	ENSP00000361865.4:n.321+32_321+33delinsGT
ENST00000433473.7:c.234+32_234+33delinsGT	ENSP00000394863.3:n.234+32_234+33delinsGT
ENST00000449045.6:c.125-2854_125-2853delinsGT	ENSP00000392293.2:n.125-2854_125-2853delinsGT
ENST00000526547.1:c.84+32_84+33delinsGT	ENSP00000436481.1:n.84+32_84+33delinsGT
ENST00000527311.6:c.125-309_125-308delinsGT	ENSP00000436695.2:n.125-309_125-308delinsGT
ENST00000529905.5:c.234+32_234+33delinsGT	ENSP00000432053.1:n.234+32_234+33delinsGT
ENST00000530704.5:c.234+32_234+33delinsGT	ENSP00000431655.1:n.234+32_234+33delinsGT
NM_000310.3:c.234+32_234+33delinsGT , LRG_690t1:c.234+32_234+33delinsGT	NP_000301.1:n.234+32_234+33delinsGT
NM_001142604.1:c.125-2854_125-2853delinsGT	NP_001136076.1:n.125-2854_125-2853delinsGT
XM_005271008.1:c.234+32_234+33delinsGT	XP_005271065.1:n.234+32_234+33delinsGT
NM_001363695.1:c.234+32_234+33delinsGT	NP_001350624.1:n.234+32_234+33delinsGT
NM_000310.4:c.234+32_234+33delinsGT MANE Select	NP_000301.1:n.234+32_234+33delinsGT
NM_001142604.2:c.125-2854_125-2853delinsGT	NP_001136076.1:n.125-2854_125-2853delinsGT
NM_001363695.2:c.234+32_234+33delinsGT	NP_001350624.1:n.234+32_234+33delinsGT