Canonical Allele Identifier: CA855194438

Gene: GDAP1

Linked Data

• dbSNP Id: rs1415047765
• gnomAD v3: 8-74364106-GCGA-G
• gnomAD v4: 8-74364106-GCGA-G
• MyVariant Identifiers: chr8:g.75276342_75276344del (hg19) ; chr8:g.74364107_74364109del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364108_74364110del , CM000670.2:g.74364108_74364110del	GRCh38
NC_000008.10:g.75276343_75276345del , CM000670.1:g.75276343_75276345del	GRCh37
NC_000008.9:g.75438898_75438900del	NCBI36
NG_008787.2:g.47979_47981del
NG_008787.3:g.47979_47981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.818_820del MANE Select	ENSP00000220822.7:p.Arg273del
ENST00000434412.3:c.686_688del	ENSP00000417006.3:p.Arg229del
ENST00000520797.6:n.929_931del
ENST00000521096.6:n.674_676del
ENST00000522568.2:c.*490_*492del	ENSP00000430136.1:n.*490_*492del
ENST00000523640.2:c.165+12787_165+12789del	ENSP00000502017.1:n.165+12787_165+12789del
ENST00000524195.2:c.280+1055_280+1057del	ENSP00000502308.1:n.280+1055_280+1057del
ENST00000674612.1:c.491_493del	ENSP00000501864.1:p.Arg164del
ENST00000674710.1:c.694+1055_694+1057del	ENSP00000502762.1:n.694+1055_694+1057del
ENST00000674754.1:c.*2381_*2383del	ENSP00000502063.1:n.*2381_*2383del
ENST00000674756.1:c.*366+1055_*366+1057del	ENSP00000501860.1:n.*366+1055_*366+1057del
ENST00000674806.1:c.491_493del	ENSP00000502637.1:p.Arg164del
ENST00000674865.1:c.614_616del	ENSP00000502437.1:p.Arg205del
ENST00000674926.1:c.*1450_*1452del	ENSP00000501799.1:n.*1450_*1452del
ENST00000674934.1:c.*506_*508del	ENSP00000502187.1:n.*506_*508del
ENST00000674944.1:c.*1421_*1423del	ENSP00000501858.1:n.*1421_*1423del
ENST00000674946.1:c.694+1055_694+1057del	ENSP00000501569.1:n.694+1055_694+1057del
ENST00000674973.1:c.512_514del	ENSP00000502447.1:p.Arg171del
ENST00000675007.1:c.*556_*558del	ENSP00000502119.1:n.*556_*558del
ENST00000675060.1:c.*483_*485del	ENSP00000501616.1:n.*483_*485del
ENST00000675165.1:c.815_817del	ENSP00000502612.1:p.Arg272del
ENST00000675220.1:c.491_493del	ENSP00000502588.1:p.Arg164del
ENST00000675265.1:c.*568_*570del	ENSP00000501848.1:n.*568_*570del
ENST00000675336.1:c.*304_*306del	ENSP00000502120.1:n.*304_*306del
ENST00000675376.1:c.491_493del	ENSP00000502838.1:p.Arg164del
ENST00000675463.1:c.896_898del	ENSP00000502327.1:p.Arg299del
ENST00000675472.1:c.*304_*306del	ENSP00000501946.1:n.*304_*306del
ENST00000675474.1:n.403_405del
ENST00000675560.1:c.*366+1055_*366+1057del	ENSP00000502118.1:n.*366+1055_*366+1057del
ENST00000675625.1:c.*490_*492del	ENSP00000501626.1:n.*490_*492del
ENST00000675633.1:c.*225_*227del	ENSP00000501785.1:n.*225_*227del
ENST00000675661.1:c.*578_*580del	ENSP00000501958.1:n.*578_*580del
ENST00000675706.1:n.2776_2778del
ENST00000675821.1:c.491_493del	ENSP00000502198.1:p.Arg164del
ENST00000675832.1:c.*490_*492del	ENSP00000502041.1:n.*490_*492del
ENST00000675928.1:c.644_646del	ENSP00000501568.1:p.Arg215del
ENST00000675944.1:c.614_616del	ENSP00000502673.1:p.Arg205del
ENST00000675999.1:c.694+1055_694+1057del	ENSP00000502572.1:n.694+1055_694+1057del
ENST00000676049.1:c.*720_*722del	ENSP00000501912.1:n.*720_*722del
ENST00000676112.1:c.884_886del	ENSP00000502295.1:p.Arg295del
ENST00000676143.1:c.491_493del	ENSP00000502828.1:p.Arg164del
ENST00000676207.1:c.694+1055_694+1057del	ENSP00000502638.1:n.694+1055_694+1057del
ENST00000676377.1:c.491_493del	ENSP00000502756.1:p.Arg164del
ENST00000676415.1:c.*124_*126del	ENSP00000502665.1:n.*124_*126del
ENST00000676443.1:c.770_772del	ENSP00000501769.1:p.Arg257del
ENST00000220822.11:c.818_820del	ENSP00000220822.7:p.Arg273del
ENST00000434412.2:c.614_616del	ENSP00000417006.2:p.Arg205del
ENST00000520797.5:n.583_585del
ENST00000521096.5:n.624_626del
ENST00000522568.1:c.*490_*492del	ENSP00000430136.1:n.*490_*492del
ENST00000524195.1:n.103+1055_103+1057del
NM_001040875.2:c.614_616del	NP_001035808.1:p.Arg205del
NM_018972.2:c.818_820del	NP_061845.2:p.Arg273del
NR_046346.1:n.752_754del
XM_011517551.1:c.1112_1114del	XP_011515853.1:p.Arg371del
XM_011517552.1:c.491_493del	XP_011515854.1:p.Arg164del
NM_001040875.3:c.614_616del	NP_001035808.1:p.Arg205del
NM_001362929.1:c.491_493del	NP_001349858.1:p.Arg164del
NM_001362930.1:c.644_646del	NP_001349859.1:p.Arg215del
NM_001362931.1:c.694+1055_694+1057del	NP_001349860.1:n.694+1055_694+1057del
NM_001362932.1:c.491_493del	NP_001349861.1:p.Arg164del
NM_018972.3:c.818_820del	NP_061845.2:p.Arg273del
NM_001362931.2:c.694+1055_694+1057del	NP_001349860.1:n.694+1055_694+1057del
NM_018972.4:c.818_820del MANE Select	NP_061845.2:p.Arg273del
NM_001040875.4:c.614_616del	NP_001035808.1:p.Arg205del
NM_001362929.2:c.491_493del	NP_001349858.1:p.Arg164del
NM_001362930.2:c.644_646del	NP_001349859.1:p.Arg215del
NM_001362932.2:c.491_493del	NP_001349861.1:p.Arg164del