Canonical Allele Identifier: CA2499219396

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 1175783
• ClinVar RCV Id: RCV001531082
• dbSNP Id: rs2131521760

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364115del , CM000670.2:g.74364115del	GRCh38
NC_000008.10:g.75276350del , CM000670.1:g.75276350del	GRCh37
NC_000008.9:g.75438905del	NCBI36
NG_008787.2:g.47986del
NG_008787.3:g.47986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.825del MANE Select	ENSP00000220822.7:p.Leu276TrpfsTer9
ENST00000434412.3:c.693del	ENSP00000417006.3:p.Leu232TrpfsTer9
ENST00000520797.6:n.936del
ENST00000521096.6:n.681del
ENST00000522568.2:c.*497del	ENSP00000430136.1:n.*497del
ENST00000523640.2:c.165+12794del	ENSP00000502017.1:n.165+12794del
ENST00000524195.2:c.280+1062del	ENSP00000502308.1:n.280+1062del
ENST00000674612.1:c.498del	ENSP00000501864.1:p.Leu167TrpfsTer9
ENST00000674710.1:c.694+1062del	ENSP00000502762.1:n.694+1062del
ENST00000674754.1:c.*2388del	ENSP00000502063.1:n.*2388del
ENST00000674756.1:c.*366+1062del	ENSP00000501860.1:n.*366+1062del
ENST00000674806.1:c.498del	ENSP00000502637.1:p.Leu167TrpfsTer9
ENST00000674865.1:c.621del	ENSP00000502437.1:p.Leu208TrpfsTer9
ENST00000674926.1:c.*1457del	ENSP00000501799.1:n.*1457del
ENST00000674934.1:c.*513del	ENSP00000502187.1:n.*513del
ENST00000674944.1:c.*1428del	ENSP00000501858.1:n.*1428del
ENST00000674946.1:c.694+1062del	ENSP00000501569.1:n.694+1062del
ENST00000674973.1:c.519del	ENSP00000502447.1:p.Leu174TrpfsTer9
ENST00000675007.1:c.*563del	ENSP00000502119.1:n.*563del
ENST00000675060.1:c.*490del	ENSP00000501616.1:n.*490del
ENST00000675165.1:c.822del	ENSP00000502612.1:p.Leu275TrpfsTer9
ENST00000675220.1:c.498del	ENSP00000502588.1:p.Leu167TrpfsTer9
ENST00000675265.1:c.*575del	ENSP00000501848.1:n.*575del
ENST00000675336.1:c.*311del	ENSP00000502120.1:n.*311del
ENST00000675376.1:c.498del	ENSP00000502838.1:p.Leu167TrpfsTer9
ENST00000675463.1:c.903del	ENSP00000502327.1:p.Leu302TrpfsTer9
ENST00000675472.1:c.*311del	ENSP00000501946.1:n.*311del
ENST00000675474.1:n.410del
ENST00000675560.1:c.*366+1062del	ENSP00000502118.1:n.*366+1062del
ENST00000675625.1:c.*497del	ENSP00000501626.1:n.*497del
ENST00000675633.1:c.*232del	ENSP00000501785.1:n.*232del
ENST00000675661.1:c.*585del	ENSP00000501958.1:n.*585del
ENST00000675706.1:n.2783del
ENST00000675821.1:c.498del	ENSP00000502198.1:p.Leu167TrpfsTer9
ENST00000675832.1:c.*497del	ENSP00000502041.1:n.*497del
ENST00000675928.1:c.651del	ENSP00000501568.1:p.Leu218TrpfsTer9
ENST00000675944.1:c.621del	ENSP00000502673.1:p.Leu208TrpfsTer9
ENST00000675999.1:c.694+1062del	ENSP00000502572.1:n.694+1062del
ENST00000676049.1:c.*727del	ENSP00000501912.1:n.*727del
ENST00000676112.1:c.891del	ENSP00000502295.1:p.Leu298TrpfsTer9
ENST00000676143.1:c.498del	ENSP00000502828.1:p.Leu167TrpfsTer9
ENST00000676207.1:c.694+1062del	ENSP00000502638.1:n.694+1062del
ENST00000676377.1:c.498del	ENSP00000502756.1:p.Leu167TrpfsTer9
ENST00000676415.1:c.*131del	ENSP00000502665.1:n.*131del
ENST00000676443.1:c.777del	ENSP00000501769.1:p.Leu260TrpfsTer9
ENST00000220822.11:c.825del	ENSP00000220822.7:p.Leu276TrpfsTer9
ENST00000434412.2:c.621del	ENSP00000417006.2:p.Leu208TrpfsTer9
ENST00000520797.5:n.590del
ENST00000521096.5:n.631del
ENST00000522568.1:c.*497del	ENSP00000430136.1:n.*497del
ENST00000524195.1:n.103+1062del
NM_001040875.2:c.621del	NP_001035808.1:p.Leu208TrpfsTer9
NM_018972.2:c.825del	NP_061845.2:p.Leu276TrpfsTer9
NR_046346.1:n.759del
XM_011517551.1:c.1119del	XP_011515853.1:p.Leu374TrpfsTer9
XM_011517552.1:c.498del	XP_011515854.1:p.Leu167TrpfsTer9
NM_001040875.3:c.621del	NP_001035808.1:p.Leu208TrpfsTer9
NM_001362929.1:c.498del	NP_001349858.1:p.Leu167TrpfsTer9
NM_001362930.1:c.651del	NP_001349859.1:p.Leu218TrpfsTer9
NM_001362931.1:c.694+1062del	NP_001349860.1:n.694+1062del
NM_001362932.1:c.498del	NP_001349861.1:p.Leu167TrpfsTer9
NM_018972.3:c.825del	NP_061845.2:p.Leu276TrpfsTer9
NM_001362931.2:c.694+1062del	NP_001349860.1:n.694+1062del
NM_018972.4:c.825del MANE Select	NP_061845.2:p.Leu276TrpfsTer9
NM_001040875.4:c.621del	NP_001035808.1:p.Leu208TrpfsTer9
NM_001362929.2:c.498del	NP_001349858.1:p.Leu167TrpfsTer9
NM_001362930.2:c.651del	NP_001349859.1:p.Leu218TrpfsTer9
NM_001362932.2:c.498del	NP_001349861.1:p.Leu167TrpfsTer9