Canonical Allele Identifier: CA1164243568

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074155_40074159delinsTTGTC , CM000663.2:g.40074155_40074159delinsTTGTC	GRCh38
NC_000001.10:g.40539827_40539831delinsTTGTC , CM000663.1:g.40539827_40539831delinsTTGTC	GRCh37
NC_000001.9:g.40312414_40312418delinsTTGTC	NCBI36
NG_009192.1:g.28312_28316delinsGACAA , LRG_690:g.28312_28316delinsGACAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.820_824delinsGACAA	ENSP00000394863.4:p.Asp274=
ENST00000439754.6:c.751_755delinsGACAA	ENSP00000403207.2:p.Asp251=
ENST00000449045.7:c.514_518delinsGACAA	ENSP00000392293.2:p.Asp172=
ENST00000527311.7:c.592_596delinsGACAA	ENSP00000436695.3:p.Asp198=
ENST00000530076.6:c.166_170delinsGACAA	ENSP00000434007.1:p.Asp56=
ENST00000530704.6:c.*446_*450delinsGACAA	ENSP00000431655.1:n.*446_*450delinsGACAA
ENST00000641083.1:c.913_917delinsGACAA
ENST00000641236.1:n.1060_1064delinsGACAA
ENST00000641319.1:c.*33_*37delinsGACAA	ENSP00000493128.1:n.*33_*37delinsGACAA
ENST00000641381.1:c.245_249delinsGACAA
ENST00000641471.1:c.910_914delinsGACAA	ENSP00000493146.1:p.Asp304=
ENST00000641691.1:c.*675_*679delinsGACAA	ENSP00000492910.1:n.*675_*679delinsGACAA
ENST00000641924.1:c.*252_*256delinsGACAA	ENSP00000493063.1:n.*252_*256delinsGACAA
ENST00000642050.2:c.823_827delinsGACAA MANE Select	ENSP00000493153.1:p.Asp275=
ENST00000372775.2:n.220_224delinsGACAA
ENST00000433473.7:c.823_827delinsGACAA	ENSP00000394863.3:p.Asp275=
ENST00000439754.5:c.436_440delinsGACAA	ENSP00000403207.1:p.Asp146=
ENST00000449045.6:c.514_518delinsGACAA	ENSP00000392293.2:p.Asp172=
ENST00000527311.6:c.598_602delinsGACAA	ENSP00000436695.2:p.Asp200=
ENST00000529905.5:c.823_827delinsGACAA	ENSP00000432053.1:p.Asp275=
ENST00000530076.5:c.166_170delinsGACAA	ENSP00000434007.1:p.Asp56=
ENST00000530704.5:c.*446_*450delinsGACAA	ENSP00000431655.1:n.*446_*450delinsGACAA
NM_000310.3:c.823_827delinsGACAA , LRG_690t1:c.823_827delinsGACAA	NP_000301.1:p.Asp275=
NM_001142604.1:c.514_518delinsGACAA	NP_001136076.1:p.Asp172=
XM_005271008.1:c.751_755delinsGACAA	XP_005271065.1:p.Asp251=
NM_001363695.1:c.751_755delinsGACAA	NP_001350624.1:p.Asp251=
NM_000310.4:c.823_827delinsGACAA MANE Select	NP_000301.1:p.Asp275=
NM_001142604.2:c.514_518delinsGACAA	NP_001136076.1:p.Asp172=
NM_001363695.2:c.751_755delinsGACAA	NP_001350624.1:p.Asp251=