Canonical Allele Identifier: CA658821010
Community Standard Title: NM_000310.4(PPT1):c.721del (p.Ser241ArgfsTer?)
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078566del , CM000663.2:g.40078566del GRCh38
NC_000001.10:g.40544238del , CM000663.1:g.40544238del GRCh37
NC_000001.9:g.40316825del NCBI36
NG_009192.1:g.23906del , LRG_690:g.23906del

Transcript Alleles

HGVS Amino-acid Change
NM_000310.4:c.721del MANE Select NP_000301.1:p.Ser241ArgfsTer?
ENST00000642050.2:c.721del MANE Select ENSP00000493153.1:p.Ser241ArgfsTer?
NM_000310.3:c.721del , LRG_690t1:c.721del NP_000301.1:p.Ser241ArgfsTer?
NM_001142604.1:c.412del NP_001136076.1:p.Ser138ArgfsTer?
NM_001142604.2:c.412del NP_001136076.1:p.Ser138ArgfsTer?
NM_001363695.1:c.721del NP_001350624.1:p.Ser241ArgfsTer7
NM_001363695.2:c.721del NP_001350624.1:p.Ser241ArgfsTer7
ENST00000372775.2:n.118del
ENST00000372779.8:c.808del ENSP00000361865.4:p.Ser270ArgfsTer?
ENST00000433473.7:c.721del ENSP00000394863.3:p.Ser241ArgfsTer?
ENST00000433473.8:c.718del ENSP00000394863.4:p.Ser240ArgfsTer?
ENST00000439754.5:c.406del ENSP00000403207.1:p.Ser136ArgfsTer7
ENST00000439754.6:c.721del ENSP00000403207.2:p.Ser241ArgfsTer7
ENST00000449045.6:c.412del ENSP00000392293.2:p.Ser138ArgfsTer?
ENST00000449045.7:c.412del ENSP00000392293.2:p.Ser138ArgfsTer?
ENST00000527311.6:c.496del ENSP00000436695.2:p.Ser166ArgfsTer?
ENST00000527311.7:c.490del ENSP00000436695.3:p.Ser164ArgfsTer?
ENST00000529905.5:c.721del ENSP00000432053.1:p.Ser241ArgfsTer?
ENST00000530076.5:c.64del ENSP00000434007.1:p.Ser22ArgfsTer?
ENST00000530076.6:c.64del ENSP00000434007.1:p.Ser22ArgfsTer?
ENST00000530704.5:c.*344del ENSP00000431655.1:n.*344del
ENST00000530704.6:c.*344del ENSP00000431655.1:n.*344del
ENST00000641083.1:c.699del
ENST00000641236.1:n.958del
ENST00000641319.1:c.721del ENSP00000493128.1:p.Ser241ArgfsTer?
ENST00000641381.1:c.149-1652del
ENST00000641471.1:c.808del ENSP00000493146.1:p.Ser270ArgfsTer?
ENST00000641691.1:c.*573del ENSP00000492910.1:n.*573del
ENST00000641924.1:c.*150del ENSP00000493063.1:n.*150del
XM_005271008.1:c.721del XP_005271065.1:p.Ser241ArgfsTer7