Canonical Allele Identifier: CA2580079746
Community Standard Title: NM_003011.4(SET):c.488_489del (p.Gly163GlufsTer13)
Gene: SET HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128692977_128692978del , CM000671.2:g.128692977_128692978del GRCh38
NC_000009.11:g.131455256_131455257del , CM000671.1:g.131455256_131455257del GRCh37
NC_000009.10:g.130495077_130495078del NCBI36
NG_030356.1:g.14323_14324del

Transcript Alleles

HGVS Amino-acid Change
NM_003011.4:c.488_489del MANE Select NP_003002.2:p.Gly163GlufsTer13
ENST00000322030.13:c.488_489del MANE Select ENSP00000318012.9:p.Gly163GlufsTer13
NM_001122821.1:c.527_528del NP_001116293.1:p.Gly176GlufsTer13
NM_001122821.2:c.527_528del NP_001116293.1:p.Gly176GlufsTer13
NM_001248000.1:c.461_462del NP_001234929.1:p.Gly154GlufsTer13
NM_001248000.2:c.461_462del NP_001234929.1:p.Gly154GlufsTer13
NM_001248001.1:c.455_456del NP_001234930.1:p.Gly152GlufsTer13
NM_001248001.2:c.455_456del NP_001234930.1:p.Gly152GlufsTer13
NM_001374326.1:c.527_528del NP_001361255.1:p.Gly176GlufsTer13
NM_003011.3:c.488_489del NP_003002.2:p.Gly163GlufsTer13
ENST00000322030.12:c.488_489del ENSP00000318012.8:p.Gly163GlufsTer13
ENST00000372686.5:c.452_453del ENSP00000361771.5:p.Gly151GlufsTer13
ENST00000372686.6:c.455_456del ENSP00000361771.6:p.Gly152GlufsTer13
ENST00000372688.8:c.455_456del ENSP00000361773.4:p.Gly152GlufsTer13
ENST00000372688.9:c.488_489del ENSP00000361773.5:p.Gly163GlufsTer13
ENST00000372692.8:c.527_528del ENSP00000361777.4:p.Gly176GlufsTer13
ENST00000409104.7:c.461_462del ENSP00000387321.3:p.Gly154GlufsTer13
ENST00000477806.5:n.679_680del
ENST00000480536.2:n.1231_1232del
ENST00000685073.1:n.974_975del
ENST00000686568.1:c.527_528del ENSP00000508597.1:p.Gly176GlufsTer7
ENST00000686840.1:c.527_528del ENSP00000509032.1:p.Gly176GlufsTer13
ENST00000691158.1:c.*390_*391del ENSP00000509950.1:n.*390_*391del
XM_011518911.1:c.527_528del XP_011517213.1:p.Gly176GlufsTer13
XM_017015013.1:c.527_528del XP_016870502.1:p.Gly176GlufsTer13
XM_017015014.1:c.527_528del XP_016870503.1:p.Gly176GlufsTer13
XM_017015015.1:c.527_528del XP_016870504.1:p.Gly176GlufsTer13
XM_017015016.2:c.488_489del XP_016870505.1:p.Gly163GlufsTer13
XM_024447650.1:c.527_528del XP_024303418.1:p.Gly176GlufsTer13