Canonical Allele Identifier: CA645542161

Gene: GDAP1

Linked Data

• COSMIC: COSM4450723

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364096del , CM000670.2:g.74364096del	GRCh38
NC_000008.10:g.75276331del , CM000670.1:g.75276331del	GRCh37
NC_000008.9:g.75438886del	NCBI36
NG_008787.2:g.47967del
NG_008787.3:g.47967del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.806del MANE Select	ENSP00000220822.7:p.Gly269GlufsTer16
ENST00000434412.3:c.674del	ENSP00000417006.3:p.Gly225GlufsTer16
ENST00000520797.6:n.917del
ENST00000521096.6:n.662del
ENST00000522568.2:c.*478del	ENSP00000430136.1:n.*478del
ENST00000523640.2:c.165+12775del	ENSP00000502017.1:n.165+12775del
ENST00000524195.2:c.280+1043del	ENSP00000502308.1:n.280+1043del
ENST00000674612.1:c.479del	ENSP00000501864.1:p.Gly160GlufsTer16
ENST00000674710.1:c.694+1043del	ENSP00000502762.1:n.694+1043del
ENST00000674754.1:c.*2369del	ENSP00000502063.1:n.*2369del
ENST00000674756.1:c.*366+1043del	ENSP00000501860.1:n.*366+1043del
ENST00000674806.1:c.479del	ENSP00000502637.1:p.Gly160GlufsTer16
ENST00000674865.1:c.602del	ENSP00000502437.1:p.Gly201GlufsTer16
ENST00000674926.1:c.*1438del	ENSP00000501799.1:n.*1438del
ENST00000674934.1:c.*494del	ENSP00000502187.1:n.*494del
ENST00000674944.1:c.*1409del	ENSP00000501858.1:n.*1409del
ENST00000674946.1:c.694+1043del	ENSP00000501569.1:n.694+1043del
ENST00000674973.1:c.500del	ENSP00000502447.1:p.Gly167GlufsTer16
ENST00000675007.1:c.*544del	ENSP00000502119.1:n.*544del
ENST00000675060.1:c.*471del	ENSP00000501616.1:n.*471del
ENST00000675165.1:c.803del	ENSP00000502612.1:p.Gly268GlufsTer16
ENST00000675220.1:c.479del	ENSP00000502588.1:p.Gly160GlufsTer16
ENST00000675265.1:c.*556del	ENSP00000501848.1:n.*556del
ENST00000675336.1:c.*292del	ENSP00000502120.1:n.*292del
ENST00000675376.1:c.479del	ENSP00000502838.1:p.Gly160GlufsTer16
ENST00000675463.1:c.884del	ENSP00000502327.1:p.Gly295GlufsTer16
ENST00000675472.1:c.*292del	ENSP00000501946.1:n.*292del
ENST00000675474.1:n.391del
ENST00000675560.1:c.*366+1043del	ENSP00000502118.1:n.*366+1043del
ENST00000675625.1:c.*478del	ENSP00000501626.1:n.*478del
ENST00000675633.1:c.*213del	ENSP00000501785.1:n.*213del
ENST00000675661.1:c.*566del	ENSP00000501958.1:n.*566del
ENST00000675706.1:n.2764del
ENST00000675821.1:c.479del	ENSP00000502198.1:p.Gly160GlufsTer16
ENST00000675832.1:c.*478del	ENSP00000502041.1:n.*478del
ENST00000675928.1:c.632del	ENSP00000501568.1:p.Gly211GlufsTer16
ENST00000675944.1:c.602del	ENSP00000502673.1:p.Gly201GlufsTer16
ENST00000675999.1:c.694+1043del	ENSP00000502572.1:n.694+1043del
ENST00000676049.1:c.*708del	ENSP00000501912.1:n.*708del
ENST00000676112.1:c.872del	ENSP00000502295.1:p.Gly291GlufsTer16
ENST00000676143.1:c.479del	ENSP00000502828.1:p.Gly160GlufsTer16
ENST00000676207.1:c.694+1043del	ENSP00000502638.1:n.694+1043del
ENST00000676377.1:c.479del	ENSP00000502756.1:p.Gly160GlufsTer16
ENST00000676415.1:c.*112del	ENSP00000502665.1:n.*112del
ENST00000676443.1:c.758del	ENSP00000501769.1:p.Gly253GlufsTer16
ENST00000220822.11:c.806del	ENSP00000220822.7:p.Gly269GlufsTer16
ENST00000434412.2:c.602del	ENSP00000417006.2:p.Gly201GlufsTer16
ENST00000520797.5:n.571del
ENST00000521096.5:n.612del
ENST00000522568.1:c.*478del	ENSP00000430136.1:n.*478del
ENST00000524195.1:n.103+1043del
NM_001040875.2:c.602del	NP_001035808.1:p.Gly201GlufsTer16
NM_018972.2:c.806del	NP_061845.2:p.Gly269GlufsTer16
NR_046346.1:n.740del
XM_011517551.1:c.1100del	XP_011515853.1:p.Gly367GlufsTer16
XM_011517552.1:c.479del	XP_011515854.1:p.Gly160GlufsTer16
NM_001040875.3:c.602del	NP_001035808.1:p.Gly201GlufsTer16
NM_001362929.1:c.479del	NP_001349858.1:p.Gly160GlufsTer16
NM_001362930.1:c.632del	NP_001349859.1:p.Gly211GlufsTer16
NM_001362931.1:c.694+1043del	NP_001349860.1:n.694+1043del
NM_001362932.1:c.479del	NP_001349861.1:p.Gly160GlufsTer16
NM_018972.3:c.806del	NP_061845.2:p.Gly269GlufsTer16
NM_001362931.2:c.694+1043del	NP_001349860.1:n.694+1043del
NM_018972.4:c.806del MANE Select	NP_061845.2:p.Gly269GlufsTer16
NM_001040875.4:c.602del	NP_001035808.1:p.Gly201GlufsTer16
NM_001362929.2:c.479del	NP_001349858.1:p.Gly160GlufsTer16
NM_001362930.2:c.632del	NP_001349859.1:p.Gly211GlufsTer16
NM_001362932.2:c.479del	NP_001349861.1:p.Gly160GlufsTer16