Canonical Allele Identifier: CA2580078953
Community Standard Title: NM_018972.4(GDAP1):c.774del (p.Lys259SerfsTer26)
Gene: GDAP1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74364064del , CM000670.2:g.74364064del GRCh38
NC_000008.10:g.75276299del , CM000670.1:g.75276299del GRCh37
NC_000008.9:g.75438854del NCBI36
NG_008787.2:g.47935del
NG_008787.3:g.47935del

Transcript Alleles

HGVS Amino-acid Change
NM_018972.4:c.774del MANE Select NP_061845.2:p.Lys259SerfsTer26
ENST00000220822.12:c.774del MANE Select ENSP00000220822.7:p.Lys259SerfsTer26
NM_001040875.2:c.570del NP_001035808.1:p.Lys191SerfsTer26
NM_001040875.3:c.570del NP_001035808.1:p.Lys191SerfsTer26
NM_001040875.4:c.570del NP_001035808.1:p.Lys191SerfsTer26
NM_001362929.1:c.447del NP_001349858.1:p.Lys150SerfsTer26
NM_001362929.2:c.447del NP_001349858.1:p.Lys150SerfsTer26
NM_001362930.1:c.600del NP_001349859.1:p.Lys201SerfsTer26
NM_001362930.2:c.600del NP_001349859.1:p.Lys201SerfsTer26
NM_001362931.1:c.694+1011del NP_001349860.1:n.694+1011del
NM_001362931.2:c.694+1011del NP_001349860.1:n.694+1011del
NM_001362932.1:c.447del NP_001349861.1:p.Lys150SerfsTer26
NM_001362932.2:c.447del NP_001349861.1:p.Lys150SerfsTer26
NM_018972.2:c.774del NP_061845.2:p.Lys259SerfsTer26
NM_018972.3:c.774del NP_061845.2:p.Lys259SerfsTer26
NR_046346.1:n.708del
ENST00000220822.11:c.774del ENSP00000220822.7:p.Lys259SerfsTer26
ENST00000434412.2:c.570del ENSP00000417006.2:p.Lys191SerfsTer26
ENST00000434412.3:c.642del ENSP00000417006.3:p.Lys215SerfsTer26
ENST00000520797.5:n.539del
ENST00000520797.6:n.885del
ENST00000521096.5:n.580del
ENST00000521096.6:n.630del
ENST00000522568.1:c.*446del ENSP00000430136.1:n.*446del
ENST00000522568.2:c.*446del ENSP00000430136.1:n.*446del
ENST00000523640.2:c.165+12743del ENSP00000502017.1:n.165+12743del
ENST00000524195.1:n.103+1011del
ENST00000524195.2:c.280+1011del ENSP00000502308.1:n.280+1011del
ENST00000674612.1:c.447del ENSP00000501864.1:p.Lys150SerfsTer26
ENST00000674710.1:c.694+1011del ENSP00000502762.1:n.694+1011del
ENST00000674754.1:c.*2337del ENSP00000502063.1:n.*2337del
ENST00000674756.1:c.*366+1011del ENSP00000501860.1:n.*366+1011del
ENST00000674806.1:c.447del ENSP00000502637.1:p.Lys150SerfsTer26
ENST00000674865.1:c.570del ENSP00000502437.1:p.Lys191SerfsTer26
ENST00000674926.1:c.*1406del ENSP00000501799.1:n.*1406del
ENST00000674934.1:c.*462del ENSP00000502187.1:n.*462del
ENST00000674944.1:c.*1377del ENSP00000501858.1:n.*1377del
ENST00000674946.1:c.694+1011del ENSP00000501569.1:n.694+1011del
ENST00000674973.1:c.468del ENSP00000502447.1:p.Lys157SerfsTer26
ENST00000675007.1:c.*512del ENSP00000502119.1:n.*512del
ENST00000675060.1:c.*439del ENSP00000501616.1:n.*439del
ENST00000675165.1:c.771del ENSP00000502612.1:p.Lys258SerfsTer26
ENST00000675220.1:c.447del ENSP00000502588.1:p.Lys150SerfsTer26
ENST00000675265.1:c.*524del ENSP00000501848.1:n.*524del
ENST00000675336.1:c.*260del ENSP00000502120.1:n.*260del
ENST00000675376.1:c.447del ENSP00000502838.1:p.Lys150SerfsTer26
ENST00000675463.1:c.852del ENSP00000502327.1:p.Lys285SerfsTer26
ENST00000675472.1:c.*260del ENSP00000501946.1:n.*260del
ENST00000675474.1:n.359del
ENST00000675560.1:c.*366+1011del ENSP00000502118.1:n.*366+1011del
ENST00000675625.1:c.*446del ENSP00000501626.1:n.*446del
ENST00000675633.1:c.*181del ENSP00000501785.1:n.*181del
ENST00000675661.1:c.*534del ENSP00000501958.1:n.*534del
ENST00000675706.1:n.2732del
ENST00000675821.1:c.447del ENSP00000502198.1:p.Lys150SerfsTer26
ENST00000675832.1:c.*446del ENSP00000502041.1:n.*446del
ENST00000675928.1:c.600del ENSP00000501568.1:p.Lys201SerfsTer26
ENST00000675944.1:c.570del ENSP00000502673.1:p.Lys191SerfsTer26
ENST00000675999.1:c.694+1011del ENSP00000502572.1:n.694+1011del
ENST00000676049.1:c.*676del ENSP00000501912.1:n.*676del
ENST00000676112.1:c.840del ENSP00000502295.1:p.Lys281SerfsTer26
ENST00000676143.1:c.447del ENSP00000502828.1:p.Lys150SerfsTer26
ENST00000676207.1:c.694+1011del ENSP00000502638.1:n.694+1011del
ENST00000676377.1:c.447del ENSP00000502756.1:p.Lys150SerfsTer26
ENST00000676415.1:c.*80del ENSP00000502665.1:n.*80del
ENST00000676443.1:c.726del ENSP00000501769.1:p.Lys243SerfsTer26
XM_011517551.1:c.1068del XP_011515853.1:p.Lys357SerfsTer26
XM_011517552.1:c.447del XP_011515854.1:p.Lys150SerfsTer26