Canonical Allele Identifier: CA915941212

Gene: PPT1

Linked Data

• ClinVar Variation Id: 666429
• ClinVar RCV Id: RCV000824956

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092583_40097170del , CM000663.2:g.40092583_40097170del	GRCh38
NC_000001.10:g.40558255_40562842del , CM000663.1:g.40558255_40562842del	GRCh37
NC_000001.9:g.40330842_40335429del	NCBI36
NG_009192.1:g.5301_9888del , LRG_690:g.5301_9888del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.69_129-76del
ENST00000433473.8:c.69_125-79del
ENST00000439754.6:c.69_125-76del
ENST00000449045.7:c.69_125-3071del
ENST00000526547.2:c.43_405-76del
ENST00000527311.7:c.69_125-76del
ENST00000530704.6:c.69_125-76del
ENST00000641083.1:c.47_103-76del
ENST00000641236.1:n.81_137-76del
ENST00000641319.1:c.69_125-76del
ENST00000641471.1:c.69_212-76del
ENST00000641548.1:c.69_125-83del
ENST00000641691.1:c.69_125-83del
ENST00000641924.1:c.69_124+4532del
ENST00000642050.2:c.69_125-76del
ENST00000372779.8:c.69_212-76del
ENST00000433473.7:c.69_125-76del
ENST00000449045.6:c.69_125-3071del
ENST00000527311.6:c.69_125-526del
ENST00000529905.5:c.69_125-76del
ENST00000530704.5:c.69_125-76del
NM_000310.3:c.69_125-76del , LRG_690t1:c.69_125-76del
NM_001142604.1:c.69_125-3071del
XM_005271008.1:c.69_125-76del
NM_001363695.1:c.69_125-76del
NM_000310.4:c.69_125-76del
NM_001142604.2:c.69_125-3071del
NM_001363695.2:c.69_125-76del