Canonical Allele Identifier: CA913074740
Community Standard Title: NM_000310.4(PPT1):c.721_722del (p.Ser241GlyfsTer?)
Gene: PPT1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.40078564_40078565del , CM000663.2:g.40078564_40078565del GRCh38
NC_000001.10:g.40544236_40544237del , CM000663.1:g.40544236_40544237del GRCh37
NC_000001.9:g.40316823_40316824del NCBI36
NG_009192.1:g.23906_23907del , LRG_690:g.23906_23907del

Transcript Alleles

HGVS Amino-acid Change
NM_000310.4:c.721_722del MANE Select NP_000301.1:p.Ser241GlyfsTer?
ENST00000642050.2:c.721_722del MANE Select ENSP00000493153.1:p.Ser241GlyfsTer?
NM_000310.3:c.721_722del , LRG_690t1:c.721_722del NP_000301.1:p.Ser241GlyfsTer?
NM_001142604.1:c.412_413del NP_001136076.1:p.Ser138GlyfsTer?
NM_001142604.2:c.412_413del NP_001136076.1:p.Ser138GlyfsTer?
NM_001363695.1:c.721_722del NP_001350624.1:p.Ser241GlyfsTer29
NM_001363695.2:c.721_722del NP_001350624.1:p.Ser241GlyfsTer29
ENST00000372775.2:n.118_119del
ENST00000372779.8:c.808_809del ENSP00000361865.4:p.Ser270GlyfsTer?
ENST00000433473.7:c.721_722del ENSP00000394863.3:p.Ser241GlyfsTer?
ENST00000433473.8:c.718_719del ENSP00000394863.4:p.Ser240GlyfsTer?
ENST00000439754.5:c.406_407del ENSP00000403207.1:p.Ser136GlyfsTer29
ENST00000439754.6:c.721_722del ENSP00000403207.2:p.Ser241GlyfsTer29
ENST00000449045.6:c.412_413del ENSP00000392293.2:p.Ser138GlyfsTer?
ENST00000449045.7:c.412_413del ENSP00000392293.2:p.Ser138GlyfsTer?
ENST00000527311.6:c.496_497del ENSP00000436695.2:p.Ser166GlyfsTer?
ENST00000527311.7:c.490_491del ENSP00000436695.3:p.Ser164GlyfsTer?
ENST00000529905.5:c.721_722del ENSP00000432053.1:p.Ser241GlyfsTer?
ENST00000530076.5:c.64_65del ENSP00000434007.1:p.Ser22GlyfsTer?
ENST00000530076.6:c.64_65del ENSP00000434007.1:p.Ser22GlyfsTer?
ENST00000530704.5:c.*344_*345del ENSP00000431655.1:n.*344_*345del
ENST00000530704.6:c.*344_*345del ENSP00000431655.1:n.*344_*345del
ENST00000641083.1:c.699_700del
ENST00000641236.1:n.958_959del
ENST00000641319.1:c.721_722del ENSP00000493128.1:p.Ser241GlyfsTer?
ENST00000641381.1:c.149-1652_149-1651del
ENST00000641471.1:c.808_809del ENSP00000493146.1:p.Ser270GlyfsTer?
ENST00000641691.1:c.*573_*574del ENSP00000492910.1:n.*573_*574del
ENST00000641924.1:c.*150_*151del ENSP00000493063.1:n.*150_*151del
XM_005271008.1:c.721_722del XP_005271065.1:p.Ser241GlyfsTer29