Canonical Allele Identifier: CA2645092792

Gene: PPT1

Linked Data

• gnomAD v4: 1-40092281-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092284del , CM000663.2:g.40092284del	GRCh38
NC_000001.10:g.40557956del , CM000663.1:g.40557956del	GRCh37
NC_000001.9:g.40330543del	NCBI36
NG_009192.1:g.10189del , LRG_690:g.10189del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*71-110del	ENSP00000361865.5:n.*71-110del
ENST00000433473.8:c.232-110del	ENSP00000394863.4:n.232-110del
ENST00000439754.6:c.235-110del	ENSP00000403207.2:n.235-110del
ENST00000449045.7:c.125-2770del	ENSP00000392293.2:n.125-2770del
ENST00000526547.2:c.515-110del
ENST00000527311.7:c.234+116del	ENSP00000436695.3:n.234+116del
ENST00000530704.6:c.235-110del	ENSP00000431655.1:n.235-110del
ENST00000641083.1:c.213-110del
ENST00000641236.1:n.362del
ENST00000641319.1:c.235-110del	ENSP00000493128.1:n.235-110del
ENST00000641471.1:c.322-110del	ENSP00000493146.1:n.322-110del
ENST00000641548.1:c.*87-110del	ENSP00000492984.1:n.*87-110del
ENST00000641691.1:c.*87-110del	ENSP00000492910.1:n.*87-110del
ENST00000641924.1:c.124+4833del	ENSP00000493063.1:n.124+4833del
ENST00000642050.2:c.235-110del MANE Select	ENSP00000493153.1:n.235-110del
ENST00000372779.8:c.322-110del	ENSP00000361865.4:n.322-110del
ENST00000433473.7:c.235-110del	ENSP00000394863.3:n.235-110del
ENST00000449045.6:c.125-2770del	ENSP00000392293.2:n.125-2770del
ENST00000526547.1:c.85-110del	ENSP00000436481.1:n.85-110del
ENST00000527311.6:c.125-225del	ENSP00000436695.2:n.125-225del
ENST00000529905.5:c.235-110del	ENSP00000432053.1:n.235-110del
ENST00000530704.5:c.235-110del	ENSP00000431655.1:n.235-110del
NM_000310.3:c.235-110del , LRG_690t1:c.235-110del	NP_000301.1:n.235-110del
NM_001142604.1:c.125-2770del	NP_001136076.1:n.125-2770del
XM_005271008.1:c.235-110del	XP_005271065.1:n.235-110del
NM_001363695.1:c.235-110del	NP_001350624.1:n.235-110del
NM_000310.4:c.235-110del MANE Select	NP_000301.1:n.235-110del
NM_001142604.2:c.125-2770del	NP_001136076.1:n.125-2770del
NM_001363695.2:c.235-110del	NP_001350624.1:n.235-110del