Canonical Allele Identifier: CA916082013

Gene: PPT1

Linked Data

• ClinVar Variation Id: 863395
• ClinVar RCV Id: RCV001070351
• dbSNP Id: rs1648444864
• gnomAD v4: 1-40074182-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40074184del , CM000663.2:g.40074184del	GRCh38
NC_000001.10:g.40539856del , CM000663.1:g.40539856del	GRCh37
NC_000001.9:g.40312443del	NCBI36
NG_009192.1:g.28288del , LRG_690:g.28288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000433473.8:c.796del
ENST00000439754.6:c.727del
ENST00000449045.7:c.490del
ENST00000527311.7:c.568del
ENST00000530076.6:c.142del
ENST00000530704.6:c.*422del
ENST00000641083.1:c.889del
ENST00000641236.1:n.1036del
ENST00000641319.1:c.*9del
ENST00000641381.1:c.221del
ENST00000641471.1:c.886del
ENST00000641691.1:c.*651del
ENST00000641924.1:c.*228del
ENST00000642050.2:c.799del
ENST00000372775.2:n.196del
ENST00000433473.7:c.799del
ENST00000439754.5:c.412del
ENST00000449045.6:c.490del
ENST00000527311.6:c.574del
ENST00000529905.5:c.799del
ENST00000530076.5:c.142del
ENST00000530704.5:c.*422del
NM_000310.3:c.799del , LRG_690t1:c.799del
NM_001142604.1:c.490del
XM_005271008.1:c.727del
NM_001363695.1:c.727del
NM_000310.4:c.799del
NM_001142604.2:c.490del
NM_001363695.2:c.727del