Canonical Allele Identifier: CA2743276847

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091533_40091535del , CM000663.2:g.40091533_40091535del	GRCh38
NC_000001.10:g.40557205_40557207del , CM000663.1:g.40557205_40557207del	GRCh37
NC_000001.9:g.40329792_40329794del	NCBI36
NG_009192.1:g.10936_10938del , LRG_690:g.10936_10938del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-136_*199-134del	ENSP00000361865.5:n.*199-136_*199-134del
ENST00000433473.8:c.360-136_360-134del	ENSP00000394863.4:n.360-136_360-134del
ENST00000439754.6:c.363-136_363-134del	ENSP00000403207.2:n.363-136_363-134del
ENST00000449045.7:c.125-2023_125-2021del	ENSP00000392293.2:n.125-2023_125-2021del
ENST00000526547.2:c.643-136_643-134del
ENST00000527311.7:c.235-136_235-134del	ENSP00000436695.3:n.235-136_235-134del
ENST00000530704.6:c.363-136_363-134del	ENSP00000431655.1:n.363-136_363-134del
ENST00000641083.1:c.341-136_341-134del
ENST00000641236.1:n.600-136_600-134del
ENST00000641319.1:c.363-136_363-134del	ENSP00000493128.1:n.363-136_363-134del
ENST00000641471.1:c.450-136_450-134del	ENSP00000493146.1:n.450-136_450-134del
ENST00000641548.1:c.*215-136_*215-134del	ENSP00000492984.1:n.*215-136_*215-134del
ENST00000641691.1:c.*215-136_*215-134del	ENSP00000492910.1:n.*215-136_*215-134del
ENST00000641924.1:c.124+5580_124+5582del	ENSP00000493063.1:n.124+5580_124+5582del
ENST00000642050.2:c.363-136_363-134del MANE Select	ENSP00000493153.1:n.363-136_363-134del
ENST00000372779.8:c.450-136_450-134del	ENSP00000361865.4:n.450-136_450-134del
ENST00000433473.7:c.363-136_363-134del	ENSP00000394863.3:n.363-136_363-134del
ENST00000439754.5:c.48-136_48-134del	ENSP00000403207.1:n.48-136_48-134del
ENST00000449045.6:c.125-2023_125-2021del	ENSP00000392293.2:n.125-2023_125-2021del
ENST00000526547.1:c.213-136_213-134del	ENSP00000436481.1:n.213-136_213-134del
ENST00000527311.6:c.138-136_138-134del	ENSP00000436695.2:n.138-136_138-134del
ENST00000529905.5:c.363-136_363-134del	ENSP00000432053.1:n.363-136_363-134del
ENST00000530704.5:c.363-136_363-134del	ENSP00000431655.1:n.363-136_363-134del
NM_000310.3:c.363-136_363-134del , LRG_690t1:c.363-136_363-134del	NP_000301.1:n.363-136_363-134del
NM_001142604.1:c.125-2023_125-2021del	NP_001136076.1:n.125-2023_125-2021del
XM_005271008.1:c.363-136_363-134del	XP_005271065.1:n.363-136_363-134del
NM_001363695.1:c.363-136_363-134del	NP_001350624.1:n.363-136_363-134del
NM_000310.4:c.363-136_363-134del MANE Select	NP_000301.1:n.363-136_363-134del
NM_001142604.2:c.125-2023_125-2021del	NP_001136076.1:n.125-2023_125-2021del
NM_001363695.2:c.363-136_363-134del	NP_001350624.1:n.363-136_363-134del