Canonical Allele Identifier: CA2645091484

Gene: PPT1

Linked Data

• gnomAD v4: 1-40078643-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078645del , CM000663.2:g.40078645del	GRCh38
NC_000001.10:g.40544317del , CM000663.1:g.40544317del	GRCh37
NC_000001.9:g.40316904del	NCBI36
NG_009192.1:g.23827del , LRG_690:g.23827del

Transcript Alleles

HGVS	Amino-acid change
ENST00000433473.8:c.639del	ENSP00000394863.4:p.Tyr214ThrfsTer5
ENST00000439754.6:c.642del	ENSP00000403207.2:p.Tyr215ThrfsTer5
ENST00000449045.7:c.333del	ENSP00000392293.2:p.Tyr112ThrfsTer5
ENST00000527311.7:c.411del	ENSP00000436695.3:p.Tyr138ThrfsTer5
ENST00000530076.6:c.-16del	ENSP00000434007.1:n.-16del
ENST00000530704.6:c.*265del	ENSP00000431655.1:n.*265del
ENST00000641083.1:c.620del
ENST00000641236.1:n.879del
ENST00000641319.1:c.642del	ENSP00000493128.1:p.Tyr215ThrfsTer5
ENST00000641381.1:c.149-1731del
ENST00000641471.1:c.729del	ENSP00000493146.1:p.Tyr244ThrfsTer5
ENST00000641691.1:c.*494del	ENSP00000492910.1:n.*494del
ENST00000641924.1:c.*71del	ENSP00000493063.1:n.*71del
ENST00000642050.2:c.642del MANE Select	ENSP00000493153.1:p.Tyr215ThrfsTer5
ENST00000372775.2:n.39del
ENST00000372779.8:c.729del	ENSP00000361865.4:p.Tyr244ThrfsTer5
ENST00000433473.7:c.642del	ENSP00000394863.3:p.Tyr215ThrfsTer5
ENST00000439754.5:c.327del	ENSP00000403207.1:p.Tyr110ThrfsTer5
ENST00000449045.6:c.333del	ENSP00000392293.2:p.Tyr112ThrfsTer5
ENST00000527311.6:c.417del	ENSP00000436695.2:p.Tyr140ThrfsTer5
ENST00000529905.5:c.642del	ENSP00000432053.1:p.Tyr215ThrfsTer5
ENST00000530076.5:c.-16del	ENSP00000434007.1:n.-16del
ENST00000530704.5:c.*265del	ENSP00000431655.1:n.*265del
NM_000310.3:c.642del , LRG_690t1:c.642del	NP_000301.1:p.Tyr215ThrfsTer5
NM_001142604.1:c.333del	NP_001136076.1:p.Tyr112ThrfsTer5
XM_005271008.1:c.642del	XP_005271065.1:p.Tyr215ThrfsTer5
NM_001363695.1:c.642del	NP_001350624.1:p.Tyr215ThrfsTer5
NM_000310.4:c.642del MANE Select	NP_000301.1:p.Tyr215ThrfsTer5
NM_001142604.2:c.333del	NP_001136076.1:p.Tyr112ThrfsTer5
NM_001363695.2:c.642del	NP_001350624.1:p.Tyr215ThrfsTer5