Canonical Allele Identifier: CA2580062735

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078637del , CM000663.2:g.40078637del	GRCh38
NC_000001.10:g.40544309del , CM000663.1:g.40544309del	GRCh37
NC_000001.9:g.40316896del	NCBI36
NG_009192.1:g.23838del , LRG_690:g.23838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.650del	ENSP00000394863.4:p.Asn217ThrfsTer2
ENST00000439754.6:c.653del	ENSP00000403207.2:p.Asn218ThrfsTer2
ENST00000449045.7:c.344del	ENSP00000392293.2:p.Asn115ThrfsTer2
ENST00000527311.7:c.422del	ENSP00000436695.3:p.Asn141ThrfsTer2
ENST00000530076.6:c.-5del	ENSP00000434007.1:n.-5del
ENST00000530704.6:c.*276del	ENSP00000431655.1:n.*276del
ENST00000641083.1:c.631del
ENST00000641236.1:n.890del
ENST00000641319.1:c.653del	ENSP00000493128.1:p.Asn218ThrfsTer2
ENST00000641381.1:c.149-1720del
ENST00000641471.1:c.740del	ENSP00000493146.1:p.Asn247ThrfsTer2
ENST00000641691.1:c.*505del	ENSP00000492910.1:n.*505del
ENST00000641924.1:c.*82del	ENSP00000493063.1:n.*82del
ENST00000642050.2:c.653del MANE Select	ENSP00000493153.1:p.Asn218ThrfsTer2
ENST00000372775.2:n.50del
ENST00000372779.8:c.740del	ENSP00000361865.4:p.Asn247ThrfsTer2
ENST00000433473.7:c.653del	ENSP00000394863.3:p.Asn218ThrfsTer2
ENST00000439754.5:c.338del	ENSP00000403207.1:p.Asn113ThrfsTer2
ENST00000449045.6:c.344del	ENSP00000392293.2:p.Asn115ThrfsTer2
ENST00000527311.6:c.428del	ENSP00000436695.2:p.Asn143ThrfsTer2
ENST00000529905.5:c.653del	ENSP00000432053.1:p.Asn218ThrfsTer2
ENST00000530076.5:c.-5del	ENSP00000434007.1:n.-5del
ENST00000530704.5:c.*276del	ENSP00000431655.1:n.*276del
NM_000310.3:c.653del , LRG_690t1:c.653del	NP_000301.1:p.Asn218ThrfsTer2
NM_001142604.1:c.344del	NP_001136076.1:p.Asn115ThrfsTer2
XM_005271008.1:c.653del	XP_005271065.1:p.Asn218ThrfsTer2
NM_001363695.1:c.653del	NP_001350624.1:p.Asn218ThrfsTer2
NM_000310.4:c.653del MANE Select	NP_000301.1:p.Asn218ThrfsTer2
NM_001142604.2:c.344del	NP_001136076.1:p.Asn115ThrfsTer2
NM_001363695.2:c.653del	NP_001350624.1:p.Asn218ThrfsTer2