Canonical Allele Identifier: CA2574329747

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091310_40091317del , CM000663.2:g.40091310_40091317del	GRCh38
NC_000001.10:g.40556982_40556989del , CM000663.1:g.40556982_40556989del	GRCh37
NC_000001.9:g.40329569_40329576del	NCBI36
NG_009192.1:g.11155_11162del , LRG_690:g.11155_11162del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+13_*269+20del	ENSP00000361865.5:n.*269+13_*269+20del
ENST00000433473.8:c.430+13_430+20del	ENSP00000394863.4:n.430+13_430+20del
ENST00000439754.6:c.433+13_433+20del	ENSP00000403207.2:n.433+13_433+20del
ENST00000449045.7:c.125-1804_125-1797del	ENSP00000392293.2:n.125-1804_125-1797del
ENST00000526547.2:c.713+13_713+20del
ENST00000527311.7:c.305+13_305+20del	ENSP00000436695.3:n.305+13_305+20del
ENST00000530704.6:c.433+13_433+20del	ENSP00000431655.1:n.433+13_433+20del
ENST00000641083.1:c.411+13_411+20del
ENST00000641236.1:n.670+13_670+20del
ENST00000641319.1:c.433+13_433+20del	ENSP00000493128.1:n.433+13_433+20del
ENST00000641381.1:c.45+13_45+20del
ENST00000641471.1:c.520+13_520+20del	ENSP00000493146.1:n.520+13_520+20del
ENST00000641548.1:c.*285+13_*285+20del	ENSP00000492984.1:n.*285+13_*285+20del
ENST00000641691.1:c.*285+13_*285+20del	ENSP00000492910.1:n.*285+13_*285+20del
ENST00000641924.1:c.124+5799_124+5806del	ENSP00000493063.1:n.124+5799_124+5806del
ENST00000642050.2:c.433+13_433+20del MANE Select	ENSP00000493153.1:n.433+13_433+20del
ENST00000372779.8:c.520+13_520+20del	ENSP00000361865.4:n.520+13_520+20del
ENST00000433473.7:c.433+13_433+20del	ENSP00000394863.3:n.433+13_433+20del
ENST00000439754.5:c.118+13_118+20del	ENSP00000403207.1:n.118+13_118+20del
ENST00000449045.6:c.125-1804_125-1797del	ENSP00000392293.2:n.125-1804_125-1797del
ENST00000526547.1:c.283+13_283+20del	ENSP00000436481.1:n.283+13_283+20del
ENST00000527311.6:c.208+13_208+20del	ENSP00000436695.2:n.208+13_208+20del
ENST00000529905.5:c.433+13_433+20del	ENSP00000432053.1:n.433+13_433+20del
ENST00000530704.5:c.433+13_433+20del	ENSP00000431655.1:n.433+13_433+20del
NM_000310.3:c.433+13_433+20del , LRG_690t1:c.433+13_433+20del	NP_000301.1:n.433+13_433+20del
NM_001142604.1:c.125-1804_125-1797del	NP_001136076.1:n.125-1804_125-1797del
XM_005271008.1:c.433+13_433+20del	XP_005271065.1:n.433+13_433+20del
NM_001363695.1:c.433+13_433+20del	NP_001350624.1:n.433+13_433+20del
NM_000310.4:c.433+13_433+20del MANE Select	NP_000301.1:n.433+13_433+20del
NM_001142604.2:c.125-1804_125-1797del	NP_001136076.1:n.125-1804_125-1797del
NM_001363695.2:c.433+13_433+20del	NP_001350624.1:n.433+13_433+20del