Canonical Allele Identifier: CA2557983049

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092401_40092402del , CM000663.2:g.40092401_40092402del	GRCh38
NC_000001.10:g.40558073_40558074del , CM000663.1:g.40558073_40558074del	GRCh37
NC_000001.9:g.40330660_40330661del	NCBI36
NG_009192.1:g.10069_10070del , LRG_690:g.10069_10070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*66_*67del	ENSP00000361865.5:n.*66_*67del
ENST00000433473.8:c.227_228del	ENSP00000394863.4:p.Met76ArgfsTer24
ENST00000439754.6:c.230_231del	ENSP00000403207.2:p.Met77ArgfsTer24
ENST00000449045.7:c.125-2890_125-2889del	ENSP00000392293.2:n.125-2890_125-2889del
ENST00000526547.2:c.510_511del
ENST00000527311.7:c.230_231del	ENSP00000436695.3:p.Met77ArgfsTer14
ENST00000530704.6:c.230_231del	ENSP00000431655.1:p.Met77ArgfsTer24
ENST00000641083.1:c.208_209del
ENST00000641236.1:n.242_243del
ENST00000641319.1:c.230_231del	ENSP00000493128.1:p.Met77ArgfsTer24
ENST00000641471.1:c.317_318del	ENSP00000493146.1:p.Met106ArgfsTer24
ENST00000641548.1:c.*82_*83del	ENSP00000492984.1:n.*82_*83del
ENST00000641691.1:c.*82_*83del	ENSP00000492910.1:n.*82_*83del
ENST00000641924.1:c.124+4713_124+4714del	ENSP00000493063.1:n.124+4713_124+4714del
ENST00000642050.2:c.230_231del MANE Select	ENSP00000493153.1:p.Met77ArgfsTer24
ENST00000372779.8:c.317_318del	ENSP00000361865.4:p.Met106ArgfsTer24
ENST00000433473.7:c.230_231del	ENSP00000394863.3:p.Met77ArgfsTer24
ENST00000449045.6:c.125-2890_125-2889del	ENSP00000392293.2:n.125-2890_125-2889del
ENST00000526547.1:c.80_81del	ENSP00000436481.1:p.Met27ArgfsTer24
ENST00000527311.6:c.125-345_125-344del	ENSP00000436695.2:n.125-345_125-344del
ENST00000529905.5:c.230_231del	ENSP00000432053.1:p.Met77ArgfsTer24
ENST00000530704.5:c.230_231del	ENSP00000431655.1:p.Met77ArgfsTer24
NM_000310.3:c.230_231del , LRG_690t1:c.230_231del	NP_000301.1:p.Met77ArgfsTer24
NM_001142604.1:c.125-2890_125-2889del	NP_001136076.1:n.125-2890_125-2889del
XM_005271008.1:c.230_231del	XP_005271065.1:p.Met77ArgfsTer24
NM_001363695.1:c.230_231del	NP_001350624.1:p.Met77ArgfsTer24
NM_000310.4:c.230_231del MANE Select	NP_000301.1:p.Met77ArgfsTer24
NM_001142604.2:c.125-2890_125-2889del	NP_001136076.1:n.125-2890_125-2889del
NM_001363695.2:c.230_231del	NP_001350624.1:p.Met77ArgfsTer24