Canonical Allele Identifier: CA16612645

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 406138
• ClinVar RCV Id: RCV000456790
• MyVariant Identifiers: chr8:g.75270582_75272469del (hg19) ; chr8:g.74358347_74360234del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74358347_74360234del , CM000670.2:g.74358347_74360234del	GRCh38
NC_000008.10:g.75270582_75272469del , CM000670.1:g.75270582_75272469del	GRCh37
NC_000008.9:g.75433137_75435024del	NCBI36
NG_008787.2:g.42218_44105del
NG_008787.3:g.42218_44105del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.311-1790_408del
ENST00000434412.3:c.179-1790_276del
ENST00000520797.6:n.422-1790_519del
ENST00000521096.6:n.341-3537_341-1650del
ENST00000522568.2:c.166-1790_*80del
ENST00000523640.2:c.165+7026_165+8913del	ENSP00000502017.1:n.165+7026_165+8913del
ENST00000524195.2:c.166-4592_166-2705del	ENSP00000502308.1:n.166-4592_166-2705del
ENST00000674612.1:c.-17-1790_81del
ENST00000674710.1:c.311-1790_408del
ENST00000674754.1:c.166-1790_*80del
ENST00000674756.1:c.166-1790_*80del
ENST00000674806.1:c.-17-1790_81del
ENST00000674865.1:c.107-1790_204del
ENST00000674926.1:c.166-1790_*80del
ENST00000674934.1:c.263-1790_*96del
ENST00000674944.1:c.166-1790_*80del
ENST00000674946.1:c.311-1790_408del
ENST00000674973.1:c.166-1790_178+85del
ENST00000675007.1:c.166-1790_*80del
ENST00000675060.1:c.166-1794_*73del
ENST00000675165.1:c.311-1790_408del
ENST00000675220.1:c.-17-1790_81del
ENST00000675265.1:c.166-1790_*80del
ENST00000675336.1:c.166-3537_166-1650del	ENSP00000502120.1:n.166-3537_166-1650del
ENST00000675376.1:c.-17-1790_81del
ENST00000675463.1:c.311-1790_408del
ENST00000675472.1:c.118-3537_118-1650del	ENSP00000501946.1:n.118-3537_118-1650del
ENST00000675560.1:c.166-1790_*80del
ENST00000675565.1:n.128-1790_225del
ENST00000675625.1:c.166-1790_*80del
ENST00000675633.1:c.311-1790_408del
ENST00000675661.1:c.166-1790_*80del
ENST00000675706.1:n.378-1790_475del
ENST00000675821.1:c.-17-1790_81del
ENST00000675832.1:c.118-1790_*80del
ENST00000675928.1:c.311-3537_311-1650del	ENSP00000501568.1:n.311-3537_311-1650del
ENST00000675944.1:c.107-1790_204del
ENST00000675999.1:c.311-1790_408del
ENST00000676049.1:c.*213-1790_*310del
ENST00000676112.1:c.311-1790_408del
ENST00000676120.1:c.166-1790_*80del
ENST00000676143.1:c.-17-1790_81del
ENST00000676207.1:c.311-1790_408del
ENST00000676377.1:c.-17-1790_81del
ENST00000676415.1:c.311-1790_408del
ENST00000676443.1:c.263-1790_360del
ENST00000220822.11:c.311-1790_408del
ENST00000434412.2:c.107-1790_204del
ENST00000520797.5:n.76-1790_173del
ENST00000521096.5:n.117-1790_214del
ENST00000522568.1:c.166-1790_*80del
ENST00000523640.1:n.146-1790_243del
ENST00000524366.5:n.329-3537_329-1650del
NM_001040875.2:c.107-1790_204del
NM_018972.2:c.311-1790_408del
NR_046346.1:n.245-1790_342del
XM_011517551.1:c.779-3537_779-1650del	XP_011515853.1:n.779-3537_779-1650del
XM_011517552.1:c.-17-1790_81del
NM_001040875.3:c.107-1790_204del
NM_001362929.1:c.-17-1790_81del
NM_001362930.1:c.311-3537_311-1650del	NP_001349859.1:n.311-3537_311-1650del
NM_001362931.1:c.311-1790_408del
NM_001362932.1:c.-17-1790_81del
NM_018972.3:c.311-1790_408del
XM_017013586.2:c.311-1790_408del
NM_001362931.2:c.311-1790_408del
NM_018972.4:c.311-1790_408del
NM_001040875.4:c.107-1790_204del
NM_001362929.2:c.-17-1790_81del
NM_001362930.2:c.311-3537_311-1650del	NP_001349859.1:n.311-3537_311-1650del
NM_001362932.2:c.-17-1790_81del