Canonical Allele Identifier: CA2743277068

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092170_40092174del , CM000663.2:g.40092170_40092174del	GRCh38
NC_000001.10:g.40557842_40557846del , CM000663.1:g.40557842_40557846del	GRCh37
NC_000001.9:g.40330429_40330433del	NCBI36
NG_009192.1:g.10297_10301del , LRG_690:g.10297_10301del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-2_*73del
ENST00000433473.8:c.232-2_234del
ENST00000439754.6:c.235-2_237del
ENST00000449045.7:c.125-2662_125-2658del	ENSP00000392293.2:n.125-2662_125-2658del
ENST00000526547.2:c.515-2_517del
ENST00000527311.7:c.234+224_234+228del	ENSP00000436695.3:n.234+224_234+228del
ENST00000530704.6:c.235-2_237del
ENST00000641083.1:c.213-2_215del
ENST00000641236.1:n.470_474del
ENST00000641319.1:c.235-2_237del
ENST00000641471.1:c.322-2_324del
ENST00000641548.1:c.*87-2_*89del
ENST00000641691.1:c.*87-2_*89del
ENST00000641924.1:c.124+4941_124+4945del	ENSP00000493063.1:n.124+4941_124+4945del
ENST00000642050.2:c.235-2_237del
ENST00000372779.8:c.322-2_324del
ENST00000433473.7:c.235-2_237del
ENST00000449045.6:c.125-2662_125-2658del	ENSP00000392293.2:n.125-2662_125-2658del
ENST00000526547.1:c.85-2_87del
ENST00000527311.6:c.125-117_125-113del	ENSP00000436695.2:n.125-117_125-113del
ENST00000529905.5:c.235-2_237del
ENST00000530704.5:c.235-2_237del
NM_000310.3:c.235-2_237del , LRG_690t1:c.235-2_237del
NM_001142604.1:c.125-2662_125-2658del	NP_001136076.1:n.125-2662_125-2658del
XM_005271008.1:c.235-2_237del
NM_001363695.1:c.235-2_237del
NM_000310.4:c.235-2_237del
NM_001142604.2:c.125-2662_125-2658del	NP_001136076.1:n.125-2662_125-2658del
NM_001363695.2:c.235-2_237del