Canonical Allele Identifier: CA2534276627

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092404_40092405insTG , CM000663.2:g.40092404_40092405insTG	GRCh38
NC_000001.10:g.40558076_40558077insTG , CM000663.1:g.40558076_40558077insTG	GRCh37
NC_000001.9:g.40330663_40330664insTG	NCBI36
NG_009192.1:g.10066_10067insCA , LRG_690:g.10066_10067insCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*63_*64insCA	ENSP00000361865.5:n.*63_*64insCA
ENST00000433473.8:c.224_225insCA	ENSP00000394863.4:p.Met76ArgfsTer11
ENST00000439754.6:c.227_228insCA	ENSP00000403207.2:p.Met77ArgfsTer11
ENST00000449045.7:c.125-2893_125-2892insCA	ENSP00000392293.2:n.125-2893_125-2892insCA
ENST00000526547.2:c.507_508insCA
ENST00000527311.7:c.227_228insCA	ENSP00000436695.3:p.Met77ArgfsTer?
ENST00000530704.6:c.227_228insCA	ENSP00000431655.1:p.Met77ArgfsTer11
ENST00000641083.1:c.205_206insCA
ENST00000641236.1:n.239_240insCA
ENST00000641319.1:c.227_228insCA	ENSP00000493128.1:p.Met77ArgfsTer11
ENST00000641471.1:c.314_315insCA	ENSP00000493146.1:p.Met106ArgfsTer11
ENST00000641548.1:c.*79_*80insCA	ENSP00000492984.1:n.*79_*80insCA
ENST00000641691.1:c.*79_*80insCA	ENSP00000492910.1:n.*79_*80insCA
ENST00000641924.1:c.124+4710_124+4711insCA	ENSP00000493063.1:n.124+4710_124+4711insCA
ENST00000642050.2:c.227_228insCA MANE Select	ENSP00000493153.1:p.Met77ArgfsTer11
ENST00000372779.8:c.314_315insCA	ENSP00000361865.4:p.Met106ArgfsTer11
ENST00000433473.7:c.227_228insCA	ENSP00000394863.3:p.Met77ArgfsTer11
ENST00000449045.6:c.125-2893_125-2892insCA	ENSP00000392293.2:n.125-2893_125-2892insCA
ENST00000526547.1:c.77_78insCA	ENSP00000436481.1:p.Met27ArgfsTer11
ENST00000527311.6:c.125-348_125-347insCA	ENSP00000436695.2:n.125-348_125-347insCA
ENST00000529905.5:c.227_228insCA	ENSP00000432053.1:p.Met77ArgfsTer11
ENST00000530704.5:c.227_228insCA	ENSP00000431655.1:p.Met77ArgfsTer11
NM_000310.3:c.227_228insCA , LRG_690t1:c.227_228insCA	NP_000301.1:p.Met77ArgfsTer11
NM_001142604.1:c.125-2893_125-2892insCA	NP_001136076.1:n.125-2893_125-2892insCA
XM_005271008.1:c.227_228insCA	XP_005271065.1:p.Met77ArgfsTer11
NM_001363695.1:c.227_228insCA	NP_001350624.1:p.Met77ArgfsTer11
NM_000310.4:c.227_228insCA MANE Select	NP_000301.1:p.Met77ArgfsTer11
NM_001142604.2:c.125-2893_125-2892insCA	NP_001136076.1:n.125-2893_125-2892insCA
NM_001363695.2:c.227_228insCA	NP_001350624.1:p.Met77ArgfsTer11