Canonical Allele Identifier: CA16612462
Gene: GDAP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 406136
dbSNP Id: rs1060500978

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.74364076del , CM000670.2:g.74364076del GRCh38
NC_000008.10:g.75276311del , CM000670.1:g.75276311del GRCh37
NC_000008.9:g.75438866del NCBI36
NG_008787.2:g.47947del
NG_008787.3:g.47947del

Transcript Alleles

HGVS Amino-acid change
ENST00000220822.12:c.786del MANE Select ENSP00000220822.7:p.Phe263LeufsTer22
ENST00000434412.3:c.654del ENSP00000417006.3:p.Phe219LeufsTer22
ENST00000520797.6:n.897del
ENST00000521096.6:n.642del
ENST00000522568.2:c.*458del ENSP00000430136.1:n.*458del
ENST00000523640.2:c.165+12755del ENSP00000502017.1:n.165+12755del
ENST00000524195.2:c.280+1023del ENSP00000502308.1:n.280+1023del
ENST00000674612.1:c.459del ENSP00000501864.1:p.Phe154LeufsTer22
ENST00000674710.1:c.694+1023del ENSP00000502762.1:n.694+1023del
ENST00000674754.1:c.*2349del ENSP00000502063.1:n.*2349del
ENST00000674756.1:c.*366+1023del ENSP00000501860.1:n.*366+1023del
ENST00000674806.1:c.459del ENSP00000502637.1:p.Phe154LeufsTer22
ENST00000674865.1:c.582del ENSP00000502437.1:p.Phe195LeufsTer22
ENST00000674926.1:c.*1418del ENSP00000501799.1:n.*1418del
ENST00000674934.1:c.*474del ENSP00000502187.1:n.*474del
ENST00000674944.1:c.*1389del ENSP00000501858.1:n.*1389del
ENST00000674946.1:c.694+1023del ENSP00000501569.1:n.694+1023del
ENST00000674973.1:c.480del ENSP00000502447.1:p.Phe161LeufsTer22
ENST00000675007.1:c.*524del ENSP00000502119.1:n.*524del
ENST00000675060.1:c.*451del ENSP00000501616.1:n.*451del
ENST00000675165.1:c.783del ENSP00000502612.1:p.Phe262LeufsTer22
ENST00000675220.1:c.459del ENSP00000502588.1:p.Phe154LeufsTer22
ENST00000675265.1:c.*536del ENSP00000501848.1:n.*536del
ENST00000675336.1:c.*272del ENSP00000502120.1:n.*272del
ENST00000675376.1:c.459del ENSP00000502838.1:p.Phe154LeufsTer22
ENST00000675463.1:c.864del ENSP00000502327.1:p.Phe289LeufsTer22
ENST00000675472.1:c.*272del ENSP00000501946.1:n.*272del
ENST00000675474.1:n.371del
ENST00000675560.1:c.*366+1023del ENSP00000502118.1:n.*366+1023del
ENST00000675625.1:c.*458del ENSP00000501626.1:n.*458del
ENST00000675633.1:c.*193del ENSP00000501785.1:n.*193del
ENST00000675661.1:c.*546del ENSP00000501958.1:n.*546del
ENST00000675706.1:n.2744del
ENST00000675821.1:c.459del ENSP00000502198.1:p.Phe154LeufsTer22
ENST00000675832.1:c.*458del ENSP00000502041.1:n.*458del
ENST00000675928.1:c.612del ENSP00000501568.1:p.Phe205LeufsTer22
ENST00000675944.1:c.582del ENSP00000502673.1:p.Phe195LeufsTer22
ENST00000675999.1:c.694+1023del ENSP00000502572.1:n.694+1023del
ENST00000676049.1:c.*688del ENSP00000501912.1:n.*688del
ENST00000676112.1:c.852del ENSP00000502295.1:p.Phe285LeufsTer22
ENST00000676143.1:c.459del ENSP00000502828.1:p.Phe154LeufsTer22
ENST00000676207.1:c.694+1023del ENSP00000502638.1:n.694+1023del
ENST00000676377.1:c.459del ENSP00000502756.1:p.Phe154LeufsTer22
ENST00000676415.1:c.*92del ENSP00000502665.1:n.*92del
ENST00000676443.1:c.738del ENSP00000501769.1:p.Phe247LeufsTer22
ENST00000220822.11:c.786del ENSP00000220822.7:p.Phe263LeufsTer22
ENST00000434412.2:c.582del ENSP00000417006.2:p.Phe195LeufsTer22
ENST00000520797.5:n.551del
ENST00000521096.5:n.592del
ENST00000522568.1:c.*458del ENSP00000430136.1:n.*458del
ENST00000524195.1:n.103+1023del
NM_001040875.2:c.582del NP_001035808.1:p.Phe195LeufsTer22
NM_018972.2:c.786del NP_061845.2:p.Phe263LeufsTer22
NR_046346.1:n.720del
XM_011517551.1:c.1080del XP_011515853.1:p.Phe361LeufsTer22
XM_011517552.1:c.459del XP_011515854.1:p.Phe154LeufsTer22
NM_001040875.3:c.582del NP_001035808.1:p.Phe195LeufsTer22
NM_001362929.1:c.459del NP_001349858.1:p.Phe154LeufsTer22
NM_001362930.1:c.612del NP_001349859.1:p.Phe205LeufsTer22
NM_001362931.1:c.694+1023del NP_001349860.1:n.694+1023del
NM_001362932.1:c.459del NP_001349861.1:p.Phe154LeufsTer22
NM_018972.3:c.786del NP_061845.2:p.Phe263LeufsTer22
NM_001362931.2:c.694+1023del NP_001349860.1:n.694+1023del
NM_018972.4:c.786del MANE Select NP_061845.2:p.Phe263LeufsTer22
NM_001040875.4:c.582del NP_001035808.1:p.Phe195LeufsTer22
NM_001362929.2:c.459del NP_001349858.1:p.Phe154LeufsTer22
NM_001362930.2:c.612del NP_001349859.1:p.Phe205LeufsTer22
NM_001362932.2:c.459del NP_001349861.1:p.Phe154LeufsTer22