Canonical Allele Identifier: CA2743276912

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091557_40091558insAG , CM000663.2:g.40091557_40091558insAG	GRCh38
NC_000001.10:g.40557229_40557230insAG , CM000663.1:g.40557229_40557230insAG	GRCh37
NC_000001.9:g.40329816_40329817insAG	NCBI36
NG_009192.1:g.10913_10914insCT , LRG_690:g.10913_10914insCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-159_*199-158insCT	ENSP00000361865.5:n.*199-159_*199-158insCT
ENST00000433473.8:c.360-159_360-158insCT	ENSP00000394863.4:n.360-159_360-158insCT
ENST00000439754.6:c.363-159_363-158insCT	ENSP00000403207.2:n.363-159_363-158insCT
ENST00000449045.7:c.125-2046_125-2045insCT	ENSP00000392293.2:n.125-2046_125-2045insCT
ENST00000526547.2:c.643-159_643-158insCT
ENST00000527311.7:c.235-159_235-158insCT	ENSP00000436695.3:n.235-159_235-158insCT
ENST00000530704.6:c.363-159_363-158insCT	ENSP00000431655.1:n.363-159_363-158insCT
ENST00000641083.1:c.341-159_341-158insCT
ENST00000641236.1:n.600-159_600-158insCT
ENST00000641319.1:c.363-159_363-158insCT	ENSP00000493128.1:n.363-159_363-158insCT
ENST00000641471.1:c.450-159_450-158insCT	ENSP00000493146.1:n.450-159_450-158insCT
ENST00000641548.1:c.*215-159_*215-158insCT	ENSP00000492984.1:n.*215-159_*215-158insCT
ENST00000641691.1:c.*215-159_*215-158insCT	ENSP00000492910.1:n.*215-159_*215-158insCT
ENST00000641924.1:c.124+5557_124+5558insCT	ENSP00000493063.1:n.124+5557_124+5558insCT
ENST00000642050.2:c.363-159_363-158insCT MANE Select	ENSP00000493153.1:n.363-159_363-158insCT
ENST00000372779.8:c.450-159_450-158insCT	ENSP00000361865.4:n.450-159_450-158insCT
ENST00000433473.7:c.363-159_363-158insCT	ENSP00000394863.3:n.363-159_363-158insCT
ENST00000439754.5:c.48-159_48-158insCT	ENSP00000403207.1:n.48-159_48-158insCT
ENST00000449045.6:c.125-2046_125-2045insCT	ENSP00000392293.2:n.125-2046_125-2045insCT
ENST00000526547.1:c.213-159_213-158insCT	ENSP00000436481.1:n.213-159_213-158insCT
ENST00000527311.6:c.138-159_138-158insCT	ENSP00000436695.2:n.138-159_138-158insCT
ENST00000529905.5:c.363-159_363-158insCT	ENSP00000432053.1:n.363-159_363-158insCT
ENST00000530704.5:c.363-159_363-158insCT	ENSP00000431655.1:n.363-159_363-158insCT
NM_000310.3:c.363-159_363-158insCT , LRG_690t1:c.363-159_363-158insCT	NP_000301.1:n.363-159_363-158insCT
NM_001142604.1:c.125-2046_125-2045insCT	NP_001136076.1:n.125-2046_125-2045insCT
XM_005271008.1:c.363-159_363-158insCT	XP_005271065.1:n.363-159_363-158insCT
NM_001363695.1:c.363-159_363-158insCT	NP_001350624.1:n.363-159_363-158insCT
NM_000310.4:c.363-159_363-158insCT MANE Select	NP_000301.1:n.363-159_363-158insCT
NM_001142604.2:c.125-2046_125-2045insCT	NP_001136076.1:n.125-2046_125-2045insCT
NM_001363695.2:c.363-159_363-158insCT	NP_001350624.1:n.363-159_363-158insCT