Canonical Allele Identifier: CA2743277067

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092169_40092170insACA , CM000663.2:g.40092169_40092170insACA	GRCh38
NC_000001.10:g.40557841_40557842insACA , CM000663.1:g.40557841_40557842insACA	GRCh37
NC_000001.9:g.40330428_40330429insACA	NCBI36
NG_009192.1:g.10301_10302insTGT , LRG_690:g.10301_10302insTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*73_*74insTGT	ENSP00000361865.5:n.*73_*74insTGT
ENST00000433473.8:c.234_235insTGT	ENSP00000394863.4:p.Asp78_Val79insCys
ENST00000439754.6:c.237_238insTGT	ENSP00000403207.2:p.Asp79_Val80insCys
ENST00000449045.7:c.125-2658_125-2657insTGT	ENSP00000392293.2:n.125-2658_125-2657insTGT
ENST00000526547.2:c.517_518insTGT
ENST00000527311.7:c.234+228_234+229insTGT	ENSP00000436695.3:n.234+228_234+229insTGT
ENST00000530704.6:c.237_238insTGT	ENSP00000431655.1:p.Asp79_Val80insCys
ENST00000641083.1:c.215_216insTGT
ENST00000641236.1:n.474_475insTGT
ENST00000641319.1:c.237_238insTGT	ENSP00000493128.1:p.Asp79_Val80insCys
ENST00000641471.1:c.324_325insTGT	ENSP00000493146.1:p.Asp108_Val109insCys
ENST00000641548.1:c.*89_*90insTGT	ENSP00000492984.1:n.*89_*90insTGT
ENST00000641691.1:c.*89_*90insTGT	ENSP00000492910.1:n.*89_*90insTGT
ENST00000641924.1:c.124+4945_124+4946insTGT	ENSP00000493063.1:n.124+4945_124+4946insTGT
ENST00000642050.2:c.237_238insTGT MANE Select	ENSP00000493153.1:p.Asp79_Val80insCys
ENST00000372779.8:c.324_325insTGT	ENSP00000361865.4:p.Asp108_Val109insCys
ENST00000433473.7:c.237_238insTGT	ENSP00000394863.3:p.Asp79_Val80insCys
ENST00000449045.6:c.125-2658_125-2657insTGT	ENSP00000392293.2:n.125-2658_125-2657insTGT
ENST00000526547.1:c.87_88insTGT	ENSP00000436481.1:p.Asp29_Val30insCys
ENST00000527311.6:c.125-113_125-112insTGT	ENSP00000436695.2:n.125-113_125-112insTGT
ENST00000529905.5:c.237_238insTGT	ENSP00000432053.1:p.Asp79_Val80insCys
ENST00000530704.5:c.237_238insTGT	ENSP00000431655.1:p.Asp79_Val80insCys
NM_000310.3:c.237_238insTGT , LRG_690t1:c.237_238insTGT	NP_000301.1:p.Asp79_Val80insCys
NM_001142604.1:c.125-2658_125-2657insTGT	NP_001136076.1:n.125-2658_125-2657insTGT
XM_005271008.1:c.237_238insTGT	XP_005271065.1:p.Asp79_Val80insCys
NM_001363695.1:c.237_238insTGT	NP_001350624.1:p.Asp79_Val80insCys
NM_000310.4:c.237_238insTGT MANE Select	NP_000301.1:p.Asp79_Val80insCys
NM_001142604.2:c.125-2658_125-2657insTGT	NP_001136076.1:n.125-2658_125-2657insTGT
NM_001363695.2:c.237_238insTGT	NP_001350624.1:p.Asp79_Val80insCys