Canonical Allele Identifier: CA2574453137

Gene: PPT1

Linked Data

• gnomAD v4: 1-40074024-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074028del , CM000663.2:g.40074028del	GRCh38
NC_000001.10:g.40539700del , CM000663.1:g.40539700del	GRCh37
NC_000001.9:g.40312287del	NCBI36
NG_009192.1:g.28446del , LRG_690:g.28446del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.*36del	ENSP00000394863.4:n.*36del
ENST00000439754.6:c.*36del	ENSP00000403207.2:n.*36del
ENST00000449045.7:c.*36del	ENSP00000392293.2:n.*36del
ENST00000530076.6:c.*36del	ENSP00000434007.1:n.*36del
ENST00000530704.6:c.*580del	ENSP00000431655.1:n.*580del
ENST00000641083.1:c.1047del
ENST00000641236.1:n.1194del
ENST00000641319.1:c.*167del	ENSP00000493128.1:n.*167del
ENST00000641381.1:c.379del
ENST00000641471.1:c.*36del	ENSP00000493146.1:n.*36del
ENST00000641691.1:c.*809del	ENSP00000492910.1:n.*809del
ENST00000641924.1:c.*386del	ENSP00000493063.1:n.*386del
ENST00000642050.2:c.*36del MANE Select	ENSP00000493153.1:n.*36del
ENST00000372775.2:n.354del
ENST00000433473.7:c.*36del	ENSP00000394863.3:n.*36del
ENST00000439754.5:c.570del	ENSP00000403207.1:n.570del
ENST00000449045.6:c.*36del	ENSP00000392293.2:n.*36del
ENST00000529905.5:c.*36del	ENSP00000432053.1:n.*36del
ENST00000530704.5:c.*580del	ENSP00000431655.1:n.*580del
NM_000310.3:c.*36del , LRG_690t1:c.*36del	NP_000301.1:n.*36del
NM_001142604.1:c.*36del	NP_001136076.1:n.*36del
XM_005271008.1:c.*36del	XP_005271065.1:n.*36del
NM_001363695.1:c.*36del	NP_001350624.1:n.*36del
NM_000310.4:c.*36del MANE Select	NP_000301.1:n.*36del
NM_001142604.2:c.*36del	NP_001136076.1:n.*36del
NM_001363695.2:c.*36del	NP_001350624.1:n.*36del