Canonical Allele Identifier: CA339850285
Gene: PPT1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40092528_40092530del , CM000663.2:g.40092528_40092530del GRCh38
NC_000001.10:g.40558200_40558202del , CM000663.1:g.40558200_40558202del GRCh37
NC_000001.9:g.40330787_40330789del NCBI36
NG_009192.1:g.9944_9946del , LRG_690:g.9944_9946del

Transcript Alleles

HGVS Amino-acid Change
ENST00000372779.9:c.129-20_129-18del ENSP00000361865.5:n.129-20_129-18del
ENST00000433473.8:c.125-23_125-21del ENSP00000394863.4:n.125-23_125-21del
ENST00000439754.6:c.125-20_125-18del ENSP00000403207.2:n.125-20_125-18del
ENST00000449045.7:c.125-3015_125-3013del ENSP00000392293.2:n.125-3015_125-3013del
ENST00000526547.2:c.405-20_405-18del
ENST00000527311.7:c.125-20_125-18del ENSP00000436695.3:n.125-20_125-18del
ENST00000530704.6:c.125-20_125-18del ENSP00000431655.1:n.125-20_125-18del
ENST00000641083.1:c.103-20_103-18del
ENST00000641236.1:n.137-20_137-18del
ENST00000641319.1:c.125-20_125-18del ENSP00000493128.1:n.125-20_125-18del
ENST00000641471.1:c.212-20_212-18del ENSP00000493146.1:n.212-20_212-18del
ENST00000641548.1:c.125-27_125-25del ENSP00000492984.1:n.125-27_125-25del
ENST00000641691.1:c.125-27_125-25del ENSP00000492910.1:n.125-27_125-25del
ENST00000641924.1:c.124+4588_124+4590del ENSP00000493063.1:n.124+4588_124+4590del
ENST00000642050.2:c.125-20_125-18del MANE Select ENSP00000493153.1:n.125-20_125-18del
ENST00000372779.8:c.212-20_212-18del ENSP00000361865.4:n.212-20_212-18del
ENST00000433473.7:c.125-20_125-18del ENSP00000394863.3:n.125-20_125-18del
ENST00000449045.6:c.125-3015_125-3013del ENSP00000392293.2:n.125-3015_125-3013del
ENST00000526547.1:c.-26-20_-26-18del ENSP00000436481.1:n.-26-20_-26-18del
ENST00000527311.6:c.125-470_125-468del ENSP00000436695.2:n.125-470_125-468del
ENST00000529905.5:c.125-20_125-18del ENSP00000432053.1:n.125-20_125-18del
ENST00000530704.5:c.125-20_125-18del ENSP00000431655.1:n.125-20_125-18del
NM_000310.3:c.125-20_125-18del , LRG_690t1:c.125-20_125-18del NP_000301.1:n.125-20_125-18del
NM_001142604.1:c.125-3015_125-3013del NP_001136076.1:n.125-3015_125-3013del
XM_005271008.1:c.125-20_125-18del XP_005271065.1:n.125-20_125-18del
NM_001363695.1:c.125-20_125-18del NP_001350624.1:n.125-20_125-18del
NM_000310.4:c.125-20_125-18del MANE Select NP_000301.1:n.125-20_125-18del
NM_001142604.2:c.125-3015_125-3013del NP_001136076.1:n.125-3015_125-3013del
NM_001363695.2:c.125-20_125-18del NP_001350624.1:n.125-20_125-18del