Canonical Allele Identifier: CA2743277000

Gene: PPT1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.40091637_40091640del , CM000663.2:g.40091637_40091640del	GRCh38
NC_000001.10:g.40557309_40557312del , CM000663.1:g.40557309_40557312del	GRCh37
NC_000001.9:g.40329896_40329899del	NCBI36
NG_009192.1:g.10836_10839del , LRG_690:g.10836_10839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372779.9:c.*199-236_*199-233del	ENSP00000361865.5:n.*199-236_*199-233del
ENST00000433473.8:c.360-236_360-233del	ENSP00000394863.4:n.360-236_360-233del
ENST00000439754.6:c.363-236_363-233del	ENSP00000403207.2:n.363-236_363-233del
ENST00000449045.7:c.125-2123_125-2120del	ENSP00000392293.2:n.125-2123_125-2120del
ENST00000526547.2:c.643-236_643-233del
ENST00000527311.7:c.235-236_235-233del	ENSP00000436695.3:n.235-236_235-233del
ENST00000530704.6:c.363-236_363-233del	ENSP00000431655.1:n.363-236_363-233del
ENST00000641083.1:c.341-236_341-233del
ENST00000641236.1:n.600-236_600-233del
ENST00000641319.1:c.363-236_363-233del	ENSP00000493128.1:n.363-236_363-233del
ENST00000641471.1:c.450-236_450-233del	ENSP00000493146.1:n.450-236_450-233del
ENST00000641548.1:c.*215-236_*215-233del	ENSP00000492984.1:n.*215-236_*215-233del
ENST00000641691.1:c.*215-236_*215-233del	ENSP00000492910.1:n.*215-236_*215-233del
ENST00000641924.1:c.124+5480_124+5483del	ENSP00000493063.1:n.124+5480_124+5483del
ENST00000642050.2:c.363-236_363-233del MANE Select	ENSP00000493153.1:n.363-236_363-233del
ENST00000372779.8:c.450-236_450-233del	ENSP00000361865.4:n.450-236_450-233del
ENST00000433473.7:c.363-236_363-233del	ENSP00000394863.3:n.363-236_363-233del
ENST00000439754.5:c.48-236_48-233del	ENSP00000403207.1:n.48-236_48-233del
ENST00000449045.6:c.125-2123_125-2120del	ENSP00000392293.2:n.125-2123_125-2120del
ENST00000526547.1:c.213-236_213-233del	ENSP00000436481.1:n.213-236_213-233del
ENST00000527311.6:c.138-236_138-233del	ENSP00000436695.2:n.138-236_138-233del
ENST00000529905.5:c.363-236_363-233del	ENSP00000432053.1:n.363-236_363-233del
ENST00000530704.5:c.363-236_363-233del	ENSP00000431655.1:n.363-236_363-233del
NM_000310.3:c.363-236_363-233del , LRG_690t1:c.363-236_363-233del	NP_000301.1:n.363-236_363-233del
NM_001142604.1:c.125-2123_125-2120del	NP_001136076.1:n.125-2123_125-2120del
XM_005271008.1:c.363-236_363-233del	XP_005271065.1:n.363-236_363-233del
NM_001363695.1:c.363-236_363-233del	NP_001350624.1:n.363-236_363-233del
NM_000310.4:c.363-236_363-233del MANE Select	NP_000301.1:n.363-236_363-233del
NM_001142604.2:c.125-2123_125-2120del	NP_001136076.1:n.125-2123_125-2120del
NM_001363695.2:c.363-236_363-233del	NP_001350624.1:n.363-236_363-233del