Canonical Allele Identifier: CA2743277071

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092201_40092214del , CM000663.2:g.40092201_40092214del	GRCh38
NC_000001.10:g.40557873_40557886del , CM000663.1:g.40557873_40557886del	GRCh37
NC_000001.9:g.40330460_40330473del	NCBI36
NG_009192.1:g.10258_10271del , LRG_690:g.10258_10271del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-41_*71-28del	ENSP00000361865.5:n.*71-41_*71-28del
ENST00000433473.8:c.232-41_232-28del	ENSP00000394863.4:n.232-41_232-28del
ENST00000439754.6:c.235-41_235-28del	ENSP00000403207.2:n.235-41_235-28del
ENST00000449045.7:c.125-2701_125-2688del	ENSP00000392293.2:n.125-2701_125-2688del
ENST00000526547.2:c.515-41_515-28del
ENST00000527311.7:c.234+185_234+198del	ENSP00000436695.3:n.234+185_234+198del
ENST00000530704.6:c.235-41_235-28del	ENSP00000431655.1:n.235-41_235-28del
ENST00000641083.1:c.213-41_213-28del
ENST00000641236.1:n.431_444del
ENST00000641319.1:c.235-41_235-28del	ENSP00000493128.1:n.235-41_235-28del
ENST00000641471.1:c.322-41_322-28del	ENSP00000493146.1:n.322-41_322-28del
ENST00000641548.1:c.*87-41_*87-28del	ENSP00000492984.1:n.*87-41_*87-28del
ENST00000641691.1:c.*87-41_*87-28del	ENSP00000492910.1:n.*87-41_*87-28del
ENST00000641924.1:c.124+4902_124+4915del	ENSP00000493063.1:n.124+4902_124+4915del
ENST00000642050.2:c.235-41_235-28del MANE Select	ENSP00000493153.1:n.235-41_235-28del
ENST00000372779.8:c.322-41_322-28del	ENSP00000361865.4:n.322-41_322-28del
ENST00000433473.7:c.235-41_235-28del	ENSP00000394863.3:n.235-41_235-28del
ENST00000449045.6:c.125-2701_125-2688del	ENSP00000392293.2:n.125-2701_125-2688del
ENST00000526547.1:c.85-41_85-28del	ENSP00000436481.1:n.85-41_85-28del
ENST00000527311.6:c.125-156_125-143del	ENSP00000436695.2:n.125-156_125-143del
ENST00000529905.5:c.235-41_235-28del	ENSP00000432053.1:n.235-41_235-28del
ENST00000530704.5:c.235-41_235-28del	ENSP00000431655.1:n.235-41_235-28del
NM_000310.3:c.235-41_235-28del , LRG_690t1:c.235-41_235-28del	NP_000301.1:n.235-41_235-28del
NM_001142604.1:c.125-2701_125-2688del	NP_001136076.1:n.125-2701_125-2688del
XM_005271008.1:c.235-41_235-28del	XP_005271065.1:n.235-41_235-28del
NM_001363695.1:c.235-41_235-28del	NP_001350624.1:n.235-41_235-28del
NM_000310.4:c.235-41_235-28del MANE Select	NP_000301.1:n.235-41_235-28del
NM_001142604.2:c.125-2701_125-2688del	NP_001136076.1:n.125-2701_125-2688del
NM_001363695.2:c.235-41_235-28del	NP_001350624.1:n.235-41_235-28del