Canonical Allele Identifier: CA2512898340

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091265_40091269del , CM000663.2:g.40091265_40091269del	GRCh38
NC_000001.10:g.40556937_40556941del , CM000663.1:g.40556937_40556941del	GRCh37
NC_000001.9:g.40329524_40329528del	NCBI36
NG_009192.1:g.11206_11210del , LRG_690:g.11206_11210del

Transcript Alleles

HGVS	Amino-acid change
ENST00000372779.9:c.*269+64_*269+68del	ENSP00000361865.5:n.*269+64_*269+68del
ENST00000433473.8:c.430+64_430+68del	ENSP00000394863.4:n.430+64_430+68del
ENST00000439754.6:c.433+64_433+68del	ENSP00000403207.2:n.433+64_433+68del
ENST00000449045.7:c.125-1753_125-1749del	ENSP00000392293.2:n.125-1753_125-1749del
ENST00000526547.2:c.713+64_713+68del
ENST00000527311.7:c.305+64_305+68del	ENSP00000436695.3:n.305+64_305+68del
ENST00000530704.6:c.433+64_433+68del	ENSP00000431655.1:n.433+64_433+68del
ENST00000641083.1:c.411+64_411+68del
ENST00000641236.1:n.670+64_670+68del
ENST00000641319.1:c.433+64_433+68del	ENSP00000493128.1:n.433+64_433+68del
ENST00000641381.1:c.45+64_45+68del
ENST00000641471.1:c.520+64_520+68del	ENSP00000493146.1:n.520+64_520+68del
ENST00000641548.1:c.*285+64_*285+68del	ENSP00000492984.1:n.*285+64_*285+68del
ENST00000641691.1:c.*285+64_*285+68del	ENSP00000492910.1:n.*285+64_*285+68del
ENST00000641924.1:c.124+5850_124+5854del	ENSP00000493063.1:n.124+5850_124+5854del
ENST00000642050.2:c.433+64_433+68del MANE Select	ENSP00000493153.1:n.433+64_433+68del
ENST00000372779.8:c.520+64_520+68del	ENSP00000361865.4:n.520+64_520+68del
ENST00000433473.7:c.433+64_433+68del	ENSP00000394863.3:n.433+64_433+68del
ENST00000439754.5:c.118+64_118+68del	ENSP00000403207.1:n.118+64_118+68del
ENST00000449045.6:c.125-1753_125-1749del	ENSP00000392293.2:n.125-1753_125-1749del
ENST00000526547.1:c.283+64_283+68del	ENSP00000436481.1:n.283+64_283+68del
ENST00000527311.6:c.208+64_208+68del	ENSP00000436695.2:n.208+64_208+68del
ENST00000529905.5:c.433+64_433+68del	ENSP00000432053.1:n.433+64_433+68del
ENST00000530704.5:c.433+64_433+68del	ENSP00000431655.1:n.433+64_433+68del
NM_000310.3:c.433+64_433+68del , LRG_690t1:c.433+64_433+68del	NP_000301.1:n.433+64_433+68del
NM_001142604.1:c.125-1753_125-1749del	NP_001136076.1:n.125-1753_125-1749del
XM_005271008.1:c.433+64_433+68del	XP_005271065.1:n.433+64_433+68del
NM_001363695.1:c.433+64_433+68del	NP_001350624.1:n.433+64_433+68del
NM_000310.4:c.433+64_433+68del MANE Select	NP_000301.1:n.433+64_433+68del
NM_001142604.2:c.125-1753_125-1749del	NP_001136076.1:n.125-1753_125-1749del
NM_001363695.2:c.433+64_433+68del	NP_001350624.1:n.433+64_433+68del