Canonical Allele Identifier: CA2743277089

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40092256_40092257insAC , CM000663.2:g.40092256_40092257insAC	GRCh38
NC_000001.10:g.40557928_40557929insAC , CM000663.1:g.40557928_40557929insAC	GRCh37
NC_000001.9:g.40330515_40330516insAC	NCBI36
NG_009192.1:g.10214_10215insGT , LRG_690:g.10214_10215insGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*71-85_*71-84insGT	ENSP00000361865.5:n.*71-85_*71-84insGT
ENST00000433473.8:c.232-85_232-84insGT	ENSP00000394863.4:n.232-85_232-84insGT
ENST00000439754.6:c.235-85_235-84insGT	ENSP00000403207.2:n.235-85_235-84insGT
ENST00000449045.7:c.125-2745_125-2744insGT	ENSP00000392293.2:n.125-2745_125-2744insGT
ENST00000526547.2:c.515-85_515-84insGT
ENST00000527311.7:c.234+141_234+142insGT	ENSP00000436695.3:n.234+141_234+142insGT
ENST00000530704.6:c.235-85_235-84insGT	ENSP00000431655.1:n.235-85_235-84insGT
ENST00000641083.1:c.213-85_213-84insGT
ENST00000641236.1:n.387_388insGT
ENST00000641319.1:c.235-85_235-84insGT	ENSP00000493128.1:n.235-85_235-84insGT
ENST00000641471.1:c.322-85_322-84insGT	ENSP00000493146.1:n.322-85_322-84insGT
ENST00000641548.1:c.*87-85_*87-84insGT	ENSP00000492984.1:n.*87-85_*87-84insGT
ENST00000641691.1:c.*87-85_*87-84insGT	ENSP00000492910.1:n.*87-85_*87-84insGT
ENST00000641924.1:c.124+4858_124+4859insGT	ENSP00000493063.1:n.124+4858_124+4859insGT
ENST00000642050.2:c.235-85_235-84insGT MANE Select	ENSP00000493153.1:n.235-85_235-84insGT
ENST00000372779.8:c.322-85_322-84insGT	ENSP00000361865.4:n.322-85_322-84insGT
ENST00000433473.7:c.235-85_235-84insGT	ENSP00000394863.3:n.235-85_235-84insGT
ENST00000449045.6:c.125-2745_125-2744insGT	ENSP00000392293.2:n.125-2745_125-2744insGT
ENST00000526547.1:c.85-85_85-84insGT	ENSP00000436481.1:n.85-85_85-84insGT
ENST00000527311.6:c.125-200_125-199insGT	ENSP00000436695.2:n.125-200_125-199insGT
ENST00000529905.5:c.235-85_235-84insGT	ENSP00000432053.1:n.235-85_235-84insGT
ENST00000530704.5:c.235-85_235-84insGT	ENSP00000431655.1:n.235-85_235-84insGT
NM_000310.3:c.235-85_235-84insGT , LRG_690t1:c.235-85_235-84insGT	NP_000301.1:n.235-85_235-84insGT
NM_001142604.1:c.125-2745_125-2744insGT	NP_001136076.1:n.125-2745_125-2744insGT
XM_005271008.1:c.235-85_235-84insGT	XP_005271065.1:n.235-85_235-84insGT
NM_001363695.1:c.235-85_235-84insGT	NP_001350624.1:n.235-85_235-84insGT
NM_000310.4:c.235-85_235-84insGT MANE Select	NP_000301.1:n.235-85_235-84insGT
NM_001142604.2:c.125-2745_125-2744insGT	NP_001136076.1:n.125-2745_125-2744insGT
NM_001363695.2:c.235-85_235-84insGT	NP_001350624.1:n.235-85_235-84insGT