Canonical Allele Identifier: CA2499214702

Gene: PPT1

Linked Data

• ClinVar Variation Id: 1069555
• ClinVar RCV Id: RCV001381455
• dbSNP Id: rs2124472229
• gnomAD v4: 1-40078572-AGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40078574_40078575del , CM000663.2:g.40078574_40078575del	GRCh38
NC_000001.10:g.40544246_40544247del , CM000663.1:g.40544246_40544247del	GRCh37
NC_000001.9:g.40316833_40316834del	NCBI36
NG_009192.1:g.23897_23898del , LRG_690:g.23897_23898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.709_710del	ENSP00000394863.4:p.Pro237CysfsTer?
ENST00000439754.6:c.712_713del	ENSP00000403207.2:p.Pro238CysfsTer?
ENST00000449045.7:c.403_404del	ENSP00000392293.2:p.Pro135CysfsTer?
ENST00000527311.7:c.481_482del	ENSP00000436695.3:p.Pro161CysfsTer?
ENST00000530076.6:c.55_56del	ENSP00000434007.1:p.Pro19CysfsTer?
ENST00000530704.6:c.*335_*336del	ENSP00000431655.1:n.*335_*336del
ENST00000641083.1:c.690_691del
ENST00000641236.1:n.949_950del
ENST00000641319.1:c.712_713del	ENSP00000493128.1:p.Pro238CysfsTer?
ENST00000641381.1:c.149-1661_149-1660del
ENST00000641471.1:c.799_800del	ENSP00000493146.1:p.Pro267CysfsTer?
ENST00000641691.1:c.*564_*565del	ENSP00000492910.1:n.*564_*565del
ENST00000641924.1:c.*141_*142del	ENSP00000493063.1:n.*141_*142del
ENST00000642050.2:c.712_713del MANE Select	ENSP00000493153.1:p.Pro238CysfsTer?
ENST00000372775.2:n.109_110del
ENST00000372779.8:c.799_800del	ENSP00000361865.4:p.Pro267CysfsTer?
ENST00000433473.7:c.712_713del	ENSP00000394863.3:p.Pro238CysfsTer?
ENST00000439754.5:c.397_398del	ENSP00000403207.1:p.Pro133CysfsTer?
ENST00000449045.6:c.403_404del	ENSP00000392293.2:p.Pro135CysfsTer?
ENST00000527311.6:c.487_488del	ENSP00000436695.2:p.Pro163CysfsTer?
ENST00000529905.5:c.712_713del	ENSP00000432053.1:p.Pro238CysfsTer?
ENST00000530076.5:c.55_56del	ENSP00000434007.1:p.Pro19CysfsTer?
ENST00000530704.5:c.*335_*336del	ENSP00000431655.1:n.*335_*336del
NM_000310.3:c.712_713del , LRG_690t1:c.712_713del	NP_000301.1:p.Pro238CysfsTer?
NM_001142604.1:c.403_404del	NP_001136076.1:p.Pro135CysfsTer?
XM_005271008.1:c.712_713del	XP_005271065.1:p.Pro238CysfsTer?
NM_001363695.1:c.712_713del	NP_001350624.1:p.Pro238CysfsTer?
NM_000310.4:c.712_713del MANE Select	NP_000301.1:p.Pro238CysfsTer?
NM_001142604.2:c.403_404del	NP_001136076.1:p.Pro135CysfsTer?
NM_001363695.2:c.712_713del	NP_001350624.1:p.Pro238CysfsTer?