Canonical Allele Identifier: CA1794116451

Gene: GDAP1

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364129_74364130delinsAC , CM000670.2:g.74364129_74364130delinsAC	GRCh38
NC_000008.10:g.75276364_75276365delinsAC , CM000670.1:g.75276364_75276365delinsAC	GRCh37
NC_000008.9:g.75438919_75438920delinsAC	NCBI36
NG_008787.2:g.48000_48001delinsAC
NG_008787.3:g.48000_48001delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.839_840delinsAC MANE Select	ENSP00000220822.7:p.Tyr280=
ENST00000434412.3:c.707_708delinsAC	ENSP00000417006.3:p.Tyr236=
ENST00000520797.6:n.950_951delinsAC
ENST00000521096.6:n.695_696delinsAC
ENST00000522568.2:c.*511_*512delinsAC	ENSP00000430136.1:n.*511_*512delinsAC
ENST00000523640.2:c.165+12808_165+12809delinsAC	ENSP00000502017.1:n.165+12808_165+12809delinsAC
ENST00000524195.2:c.280+1076_280+1077delinsAC	ENSP00000502308.1:n.280+1076_280+1077delinsAC
ENST00000674612.1:c.512_513delinsAC	ENSP00000501864.1:p.Tyr171=
ENST00000674710.1:c.694+1076_694+1077delinsAC	ENSP00000502762.1:n.694+1076_694+1077delinsAC
ENST00000674754.1:c.*2402_*2403delinsAC	ENSP00000502063.1:n.*2402_*2403delinsAC
ENST00000674756.1:c.*366+1076_*366+1077delinsAC	ENSP00000501860.1:n.*366+1076_*366+1077delinsAC
ENST00000674806.1:c.512_513delinsAC	ENSP00000502637.1:p.Tyr171=
ENST00000674865.1:c.635_636delinsAC	ENSP00000502437.1:p.Tyr212=
ENST00000674926.1:c.*1471_*1472delinsAC	ENSP00000501799.1:n.*1471_*1472delinsAC
ENST00000674934.1:c.*527_*528delinsAC	ENSP00000502187.1:n.*527_*528delinsAC
ENST00000674944.1:c.*1442_*1443delinsAC	ENSP00000501858.1:n.*1442_*1443delinsAC
ENST00000674946.1:c.694+1076_694+1077delinsAC	ENSP00000501569.1:n.694+1076_694+1077delinsAC
ENST00000674973.1:c.533_534delinsAC	ENSP00000502447.1:p.Tyr178=
ENST00000675007.1:c.*577_*578delinsAC	ENSP00000502119.1:n.*577_*578delinsAC
ENST00000675060.1:c.*504_*505delinsAC	ENSP00000501616.1:n.*504_*505delinsAC
ENST00000675165.1:c.836_837delinsAC	ENSP00000502612.1:p.Tyr279=
ENST00000675220.1:c.512_513delinsAC	ENSP00000502588.1:p.Tyr171=
ENST00000675265.1:c.*589_*590delinsAC	ENSP00000501848.1:n.*589_*590delinsAC
ENST00000675336.1:c.*325_*326delinsAC	ENSP00000502120.1:n.*325_*326delinsAC
ENST00000675376.1:c.512_513delinsAC	ENSP00000502838.1:p.Tyr171=
ENST00000675463.1:c.917_918delinsAC	ENSP00000502327.1:p.Tyr306=
ENST00000675472.1:c.*325_*326delinsAC	ENSP00000501946.1:n.*325_*326delinsAC
ENST00000675474.1:n.424_425delinsAC
ENST00000675560.1:c.*366+1076_*366+1077delinsAC	ENSP00000502118.1:n.*366+1076_*366+1077delinsAC
ENST00000675625.1:c.*511_*512delinsAC	ENSP00000501626.1:n.*511_*512delinsAC
ENST00000675633.1:c.*246_*247delinsAC	ENSP00000501785.1:n.*246_*247delinsAC
ENST00000675661.1:c.*599_*600delinsAC	ENSP00000501958.1:n.*599_*600delinsAC
ENST00000675706.1:n.2797_2798delinsAC
ENST00000675821.1:c.512_513delinsAC	ENSP00000502198.1:p.Tyr171=
ENST00000675832.1:c.*511_*512delinsAC	ENSP00000502041.1:n.*511_*512delinsAC
ENST00000675928.1:c.665_666delinsAC	ENSP00000501568.1:p.Tyr222=
ENST00000675944.1:c.635_636delinsAC	ENSP00000502673.1:p.Tyr212=
ENST00000675999.1:c.694+1076_694+1077delinsAC	ENSP00000502572.1:n.694+1076_694+1077delinsAC
ENST00000676049.1:c.*741_*742delinsAC	ENSP00000501912.1:n.*741_*742delinsAC
ENST00000676112.1:c.905_906delinsAC	ENSP00000502295.1:p.Tyr302=
ENST00000676143.1:c.512_513delinsAC	ENSP00000502828.1:p.Tyr171=
ENST00000676207.1:c.694+1076_694+1077delinsAC	ENSP00000502638.1:n.694+1076_694+1077delinsAC
ENST00000676377.1:c.512_513delinsAC	ENSP00000502756.1:p.Tyr171=
ENST00000676415.1:c.*145_*146delinsAC	ENSP00000502665.1:n.*145_*146delinsAC
ENST00000676443.1:c.791_792delinsAC	ENSP00000501769.1:p.Tyr264=
ENST00000220822.11:c.839_840delinsAC	ENSP00000220822.7:p.Tyr280=
ENST00000434412.2:c.635_636delinsAC	ENSP00000417006.2:p.Tyr212=
ENST00000520797.5:n.604_605delinsAC
ENST00000521096.5:n.645_646delinsAC
ENST00000522568.1:c.*511_*512delinsAC	ENSP00000430136.1:n.*511_*512delinsAC
ENST00000524195.1:n.103+1076_103+1077delinsAC
NM_001040875.2:c.635_636delinsAC	NP_001035808.1:p.Tyr212=
NM_018972.2:c.839_840delinsAC	NP_061845.2:p.Tyr280=
NR_046346.1:n.773_774delinsAC
XM_011517551.1:c.1133_1134delinsAC	XP_011515853.1:p.Tyr378=
XM_011517552.1:c.512_513delinsAC	XP_011515854.1:p.Tyr171=
NM_001040875.3:c.635_636delinsAC	NP_001035808.1:p.Tyr212=
NM_001362929.1:c.512_513delinsAC	NP_001349858.1:p.Tyr171=
NM_001362930.1:c.665_666delinsAC	NP_001349859.1:p.Tyr222=
NM_001362931.1:c.694+1076_694+1077delinsAC	NP_001349860.1:n.694+1076_694+1077delinsAC
NM_001362932.1:c.512_513delinsAC	NP_001349861.1:p.Tyr171=
NM_018972.3:c.839_840delinsAC	NP_061845.2:p.Tyr280=
NM_001362931.2:c.694+1076_694+1077delinsAC	NP_001349860.1:n.694+1076_694+1077delinsAC
NM_018972.4:c.839_840delinsAC MANE Select	NP_061845.2:p.Tyr280=
NM_001040875.4:c.635_636delinsAC	NP_001035808.1:p.Tyr212=
NM_001362929.2:c.512_513delinsAC	NP_001349858.1:p.Tyr171=
NM_001362930.2:c.665_666delinsAC	NP_001349859.1:p.Tyr222=
NM_001362932.2:c.512_513delinsAC	NP_001349861.1:p.Tyr171=