Canonical Allele Identifier: CA915945747

Gene: GDAP1

Linked Data

• ClinVar Variation Id: 637127
• ClinVar RCV Id: RCV000789168 ; RCV002536913 ; RCV003447199
• dbSNP Id: rs1586807387
• gnomAD v4: 8-74364129-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.74364130del , CM000670.2:g.74364130del	GRCh38
NC_000008.10:g.75276365del , CM000670.1:g.75276365del	GRCh37
NC_000008.9:g.75438920del	NCBI36
NG_008787.2:g.48001del
NG_008787.3:g.48001del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000220822.12:c.840del MANE Select	ENSP00000220822.7:p.Tyr280Ter
ENST00000434412.3:c.708del	ENSP00000417006.3:p.Tyr236Ter
ENST00000520797.6:n.951del
ENST00000521096.6:n.696del
ENST00000522568.2:c.*512del	ENSP00000430136.1:n.*512del
ENST00000523640.2:c.165+12809del	ENSP00000502017.1:n.165+12809del
ENST00000524195.2:c.280+1077del	ENSP00000502308.1:n.280+1077del
ENST00000674612.1:c.513del	ENSP00000501864.1:p.Tyr171Ter
ENST00000674710.1:c.694+1077del	ENSP00000502762.1:n.694+1077del
ENST00000674754.1:c.*2403del	ENSP00000502063.1:n.*2403del
ENST00000674756.1:c.*366+1077del	ENSP00000501860.1:n.*366+1077del
ENST00000674806.1:c.513del	ENSP00000502637.1:p.Tyr171Ter
ENST00000674865.1:c.636del	ENSP00000502437.1:p.Tyr212Ter
ENST00000674926.1:c.*1472del	ENSP00000501799.1:n.*1472del
ENST00000674934.1:c.*528del	ENSP00000502187.1:n.*528del
ENST00000674944.1:c.*1443del	ENSP00000501858.1:n.*1443del
ENST00000674946.1:c.694+1077del	ENSP00000501569.1:n.694+1077del
ENST00000674973.1:c.534del	ENSP00000502447.1:p.Tyr178Ter
ENST00000675007.1:c.*578del	ENSP00000502119.1:n.*578del
ENST00000675060.1:c.*505del	ENSP00000501616.1:n.*505del
ENST00000675165.1:c.837del	ENSP00000502612.1:p.Tyr279Ter
ENST00000675220.1:c.513del	ENSP00000502588.1:p.Tyr171Ter
ENST00000675265.1:c.*590del	ENSP00000501848.1:n.*590del
ENST00000675336.1:c.*326del	ENSP00000502120.1:n.*326del
ENST00000675376.1:c.513del	ENSP00000502838.1:p.Tyr171Ter
ENST00000675463.1:c.918del	ENSP00000502327.1:p.Tyr306Ter
ENST00000675472.1:c.*326del	ENSP00000501946.1:n.*326del
ENST00000675474.1:n.425del
ENST00000675560.1:c.*366+1077del	ENSP00000502118.1:n.*366+1077del
ENST00000675625.1:c.*512del	ENSP00000501626.1:n.*512del
ENST00000675633.1:c.*247del	ENSP00000501785.1:n.*247del
ENST00000675661.1:c.*600del	ENSP00000501958.1:n.*600del
ENST00000675706.1:n.2798del
ENST00000675821.1:c.513del	ENSP00000502198.1:p.Tyr171Ter
ENST00000675832.1:c.*512del	ENSP00000502041.1:n.*512del
ENST00000675928.1:c.666del	ENSP00000501568.1:p.Tyr222Ter
ENST00000675944.1:c.636del	ENSP00000502673.1:p.Tyr212Ter
ENST00000675999.1:c.694+1077del	ENSP00000502572.1:n.694+1077del
ENST00000676049.1:c.*742del	ENSP00000501912.1:n.*742del
ENST00000676112.1:c.906del	ENSP00000502295.1:p.Tyr302Ter
ENST00000676143.1:c.513del	ENSP00000502828.1:p.Tyr171Ter
ENST00000676207.1:c.694+1077del	ENSP00000502638.1:n.694+1077del
ENST00000676377.1:c.513del	ENSP00000502756.1:p.Tyr171Ter
ENST00000676415.1:c.*146del	ENSP00000502665.1:n.*146del
ENST00000676443.1:c.792del	ENSP00000501769.1:p.Tyr264Ter
ENST00000220822.11:c.840del	ENSP00000220822.7:p.Tyr280Ter
ENST00000434412.2:c.636del	ENSP00000417006.2:p.Tyr212Ter
ENST00000520797.5:n.605del
ENST00000521096.5:n.646del
ENST00000522568.1:c.*512del	ENSP00000430136.1:n.*512del
ENST00000524195.1:n.103+1077del
NM_001040875.2:c.636del	NP_001035808.1:p.Tyr212Ter
NM_018972.2:c.840del	NP_061845.2:p.Tyr280Ter
NR_046346.1:n.774del
XM_011517551.1:c.1134del	XP_011515853.1:p.Tyr378Ter
XM_011517552.1:c.513del	XP_011515854.1:p.Tyr171Ter
NM_001040875.3:c.636del	NP_001035808.1:p.Tyr212Ter
NM_001362929.1:c.513del	NP_001349858.1:p.Tyr171Ter
NM_001362930.1:c.666del	NP_001349859.1:p.Tyr222Ter
NM_001362931.1:c.694+1077del	NP_001349860.1:n.694+1077del
NM_001362932.1:c.513del	NP_001349861.1:p.Tyr171Ter
NM_018972.3:c.840del	NP_061845.2:p.Tyr280Ter
NM_001362931.2:c.694+1077del	NP_001349860.1:n.694+1077del
NM_018972.4:c.840del MANE Select	NP_061845.2:p.Tyr280Ter
NM_001040875.4:c.636del	NP_001035808.1:p.Tyr212Ter
NM_001362929.2:c.513del	NP_001349858.1:p.Tyr171Ter
NM_001362930.2:c.666del	NP_001349859.1:p.Tyr222Ter
NM_001362932.2:c.513del	NP_001349861.1:p.Tyr171Ter