Canonical Allele Identifier: CA2739272476

Gene: PPT1

Linked Data

• ClinVar Variation Id: 2813305
• ClinVar RCV Id: RCV003620743

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092117del , CM000663.2:g.40092117del	GRCh38
NC_000001.10:g.40557789del , CM000663.1:g.40557789del	GRCh37
NC_000001.9:g.40330376del	NCBI36
NG_009192.1:g.10354del , LRG_690:g.10354del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*126del	ENSP00000361865.5:n.*126del
ENST00000433473.8:c.287del	ENSP00000394863.4:p.Gln96ArgfsTer25
ENST00000439754.6:c.290del	ENSP00000403207.2:p.Gln97ArgfsTer25
ENST00000449045.7:c.125-2605del	ENSP00000392293.2:n.125-2605del
ENST00000526547.2:c.570del
ENST00000527311.7:c.234+281del	ENSP00000436695.3:n.234+281del
ENST00000530704.6:c.290del	ENSP00000431655.1:p.Gln97ArgfsTer25
ENST00000641083.1:c.268del
ENST00000641236.1:n.527del
ENST00000641319.1:c.290del	ENSP00000493128.1:p.Gln97ArgfsTer25
ENST00000641471.1:c.377del	ENSP00000493146.1:p.Gln126ArgfsTer25
ENST00000641548.1:c.*142del	ENSP00000492984.1:n.*142del
ENST00000641691.1:c.*142del	ENSP00000492910.1:n.*142del
ENST00000641924.1:c.124+4998del	ENSP00000493063.1:n.124+4998del
ENST00000642050.2:c.290del MANE Select	ENSP00000493153.1:p.Gln97ArgfsTer25
ENST00000372779.8:c.377del	ENSP00000361865.4:p.Gln126ArgfsTer25
ENST00000433473.7:c.290del	ENSP00000394863.3:p.Gln97ArgfsTer25
ENST00000449045.6:c.125-2605del	ENSP00000392293.2:n.125-2605del
ENST00000526547.1:c.140del	ENSP00000436481.1:p.Gln47ArgfsTer25
ENST00000527311.6:c.125-60del	ENSP00000436695.2:n.125-60del
ENST00000529905.5:c.290del	ENSP00000432053.1:p.Gln97ArgfsTer25
ENST00000530704.5:c.290del	ENSP00000431655.1:p.Gln97ArgfsTer25
NM_000310.3:c.290del , LRG_690t1:c.290del	NP_000301.1:p.Gln97ArgfsTer25
NM_001142604.1:c.125-2605del	NP_001136076.1:n.125-2605del
XM_005271008.1:c.290del	XP_005271065.1:p.Gln97ArgfsTer25
NM_001363695.1:c.290del	NP_001350624.1:p.Gln97ArgfsTer25
NM_000310.4:c.290del MANE Select	NP_000301.1:p.Gln97ArgfsTer25
NM_001142604.2:c.125-2605del	NP_001136076.1:n.125-2605del
NM_001363695.2:c.290del	NP_001350624.1:p.Gln97ArgfsTer25