Canonical Allele Identifier: CA2743277082

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092237_40092339del , CM000663.2:g.40092237_40092339del	GRCh38
NC_000001.10:g.40557909_40558011del , CM000663.1:g.40557909_40558011del	GRCh37
NC_000001.9:g.40330496_40330598del	NCBI36
NG_009192.1:g.10133_10235del , LRG_690:g.10133_10235del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*70+60_*71-64del	ENSP00000361865.5:n.*70+60_*71-64del
ENST00000433473.8:c.231+60_232-64del	ENSP00000394863.4:n.231+60_232-64del
ENST00000439754.6:c.234+60_235-64del	ENSP00000403207.2:n.234+60_235-64del
ENST00000449045.7:c.125-2826_125-2724del	ENSP00000392293.2:n.125-2826_125-2724del
ENST00000526547.2:c.514+60_515-64del
ENST00000527311.7:c.234+60_234+162del	ENSP00000436695.3:n.234+60_234+162del
ENST00000530704.6:c.234+60_235-64del	ENSP00000431655.1:n.234+60_235-64del
ENST00000641083.1:c.212+60_213-64del
ENST00000641236.1:n.306_408del
ENST00000641319.1:c.234+60_235-64del	ENSP00000493128.1:n.234+60_235-64del
ENST00000641471.1:c.321+60_322-64del	ENSP00000493146.1:n.321+60_322-64del
ENST00000641548.1:c.*86+60_*87-64del	ENSP00000492984.1:n.*86+60_*87-64del
ENST00000641691.1:c.*86+60_*87-64del	ENSP00000492910.1:n.*86+60_*87-64del
ENST00000641924.1:c.124+4777_124+4879del	ENSP00000493063.1:n.124+4777_124+4879del
ENST00000642050.2:c.234+60_235-64del MANE Select	ENSP00000493153.1:n.234+60_235-64del
ENST00000372779.8:c.321+60_322-64del	ENSP00000361865.4:n.321+60_322-64del
ENST00000433473.7:c.234+60_235-64del	ENSP00000394863.3:n.234+60_235-64del
ENST00000449045.6:c.125-2826_125-2724del	ENSP00000392293.2:n.125-2826_125-2724del
ENST00000526547.1:c.84+60_85-64del	ENSP00000436481.1:n.84+60_85-64del
ENST00000527311.6:c.125-281_125-179del	ENSP00000436695.2:n.125-281_125-179del
ENST00000529905.5:c.234+60_235-64del	ENSP00000432053.1:n.234+60_235-64del
ENST00000530704.5:c.234+60_235-64del	ENSP00000431655.1:n.234+60_235-64del
NM_000310.3:c.234+60_235-64del , LRG_690t1:c.234+60_235-64del	NP_000301.1:n.234+60_235-64del
NM_001142604.1:c.125-2826_125-2724del	NP_001136076.1:n.125-2826_125-2724del
XM_005271008.1:c.234+60_235-64del	XP_005271065.1:n.234+60_235-64del
NM_001363695.1:c.234+60_235-64del	NP_001350624.1:n.234+60_235-64del
NM_000310.4:c.234+60_235-64del MANE Select	NP_000301.1:n.234+60_235-64del
NM_001142604.2:c.125-2826_125-2724del	NP_001136076.1:n.125-2826_125-2724del
NM_001363695.2:c.234+60_235-64del	NP_001350624.1:n.234+60_235-64del