Canonical Allele Identifier: CA1144228751

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092495_40092499delinsCAACA , CM000663.2:g.40092495_40092499delinsCAACA	GRCh38
NC_000001.10:g.40558167_40558171delinsCAACA , CM000663.1:g.40558167_40558171delinsCAACA	GRCh37
NC_000001.9:g.40330754_40330758delinsCAACA	NCBI36
NG_009192.1:g.9972_9976delinsTGTTG , LRG_690:g.9972_9976delinsTGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.137_141delinsTGTTG	ENSP00000361865.5:p.Leu46=
ENST00000433473.8:c.130_134delinsTGTTG	ENSP00000394863.4:p.Cys44=
ENST00000439754.6:c.133_137delinsTGTTG	ENSP00000403207.2:p.Cys45=
ENST00000449045.7:c.125-2987_125-2983delinsTGTTG	ENSP00000392293.2:n.125-2987_125-2983delinsTGTTG
ENST00000526547.2:c.413_417delinsTGTTG
ENST00000527311.7:c.133_137delinsTGTTG	ENSP00000436695.3:p.Cys45=
ENST00000530704.6:c.133_137delinsTGTTG	ENSP00000431655.1:p.Cys45=
ENST00000641083.1:c.111_115delinsTGTTG
ENST00000641236.1:n.145_149delinsTGTTG
ENST00000641319.1:c.133_137delinsTGTTG	ENSP00000493128.1:p.Cys45=
ENST00000641471.1:c.220_224delinsTGTTG	ENSP00000493146.1:p.Cys74=
ENST00000641548.1:c.126_130delinsTGTTG	ENSP00000492984.1:p.Ala42=
ENST00000641691.1:c.126_130delinsTGTTG	ENSP00000492910.1:p.Ala42=
ENST00000641924.1:c.124+4616_124+4620delinsTGTTG	ENSP00000493063.1:n.124+4616_124+4620delinsTGTTG
ENST00000642050.2:c.133_137delinsTGTTG MANE Select	ENSP00000493153.1:p.Cys45=
ENST00000372779.8:c.220_224delinsTGTTG	ENSP00000361865.4:p.Cys74=
ENST00000433473.7:c.133_137delinsTGTTG	ENSP00000394863.3:p.Cys45=
ENST00000449045.6:c.125-2987_125-2983delinsTGTTG	ENSP00000392293.2:n.125-2987_125-2983delinsTGTTG
ENST00000526547.1:c.-18_-14delinsTGTTG	ENSP00000436481.1:n.-18_-14delinsTGTTG
ENST00000527311.6:c.125-442_125-438delinsTGTTG	ENSP00000436695.2:n.125-442_125-438delinsTGTTG
ENST00000529905.5:c.133_137delinsTGTTG	ENSP00000432053.1:p.Cys45=
ENST00000530704.5:c.133_137delinsTGTTG	ENSP00000431655.1:p.Cys45=
NM_000310.3:c.133_137delinsTGTTG , LRG_690t1:c.133_137delinsTGTTG	NP_000301.1:p.Cys45=
NM_001142604.1:c.125-2987_125-2983delinsTGTTG	NP_001136076.1:n.125-2987_125-2983delinsTGTTG
XM_005271008.1:c.133_137delinsTGTTG	XP_005271065.1:p.Cys45=
NM_001363695.1:c.133_137delinsTGTTG	NP_001350624.1:p.Cys45=
NM_000310.4:c.133_137delinsTGTTG MANE Select	NP_000301.1:p.Cys45=
NM_001142604.2:c.125-2987_125-2983delinsTGTTG	NP_001136076.1:n.125-2987_125-2983delinsTGTTG
NM_001363695.2:c.133_137delinsTGTTG	NP_001350624.1:p.Cys45=