Canonical Allele Identifier: CA789733610

Gene: ETFDH

Linked Data

• ClinVar Variation Id: 1075333
• ClinVar RCV Id: RCV001388893
• dbSNP Id: rs1369800014
• gnomAD v4: 4-158703438-AC-A
• MyVariant Identifiers: chr4:g.159624591del (hg19) ; chr4:g.158703439del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703440del , CM000666.2:g.158703440del	GRCh38
NC_000004.11:g.159624592del , CM000666.1:g.159624592del	GRCh37
NC_000004.10:g.159844042del	NCBI36
NG_007078.2:g.36099del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681978.1:n.2670del
ENST00000682178.1:n.2166del
ENST00000682345.1:c.*834del	ENSP00000508122.1:n.*834del
ENST00000682452.1:n.1465del
ENST00000682456.1:c.993del	ENSP00000508240.1:p.Pro333LeufsTer5
ENST00000682566.1:n.1917del
ENST00000682613.1:n.1446del
ENST00000682734.1:c.-40del	ENSP00000507860.1:n.-40del
ENST00000682820.1:n.1171del
ENST00000683004.1:c.*827del	ENSP00000506936.1:n.*827del
ENST00000683079.1:c.*559del	ENSP00000507296.1:n.*559del
ENST00000683081.1:c.*971del	ENSP00000507722.1:n.*971del
ENST00000683181.1:n.413del
ENST00000683209.1:n.3460del
ENST00000683305.1:c.951del	ENSP00000508043.1:p.Pro319LeufsTer5
ENST00000683448.1:c.*54del	ENSP00000506931.1:n.*54del
ENST00000683478.1:c.*485del	ENSP00000507793.1:n.*485del
ENST00000683483.1:c.990del	ENSP00000507719.1:p.Pro332LeufsTer5
ENST00000683622.1:n.848del
ENST00000683751.1:c.639del	ENSP00000506944.1:p.Pro215LeufsTer5
ENST00000684036.1:c.951del	ENSP00000507276.1:p.Pro319LeufsTer5
ENST00000684129.1:c.-40del	ENSP00000507174.1:n.-40del
ENST00000684209.1:n.1509del
ENST00000684296.1:c.*54del	ENSP00000507740.1:n.*54del
ENST00000684505.1:c.1083del	ENSP00000508237.1:p.Pro363LeufsTer5
ENST00000684552.1:c.*54del	ENSP00000506899.1:n.*54del
ENST00000684611.1:n.2862del
ENST00000684622.1:c.1134del	ENSP00000507546.1:p.Pro380LeufsTer5
ENST00000684627.1:c.951del	ENSP00000507471.1:p.Pro319LeufsTer5
ENST00000684641.1:c.849del	ENSP00000507642.1:p.Pro285LeufsTer5
ENST00000684675.1:c.1175del	ENSP00000506934.1:p.Pro392LeufsTer10
ENST00000684749.1:n.1203del
ENST00000511912.6:c.1134del MANE Select	ENSP00000426638.1:p.Pro380LeufsTer5
ENST00000307738.5:c.993del	ENSP00000303552.5:p.Pro333LeufsTer5
ENST00000506422.1:n.104del
ENST00000511912.5:c.1134del	ENSP00000426638.1:p.Pro380LeufsTer5
NM_001281737.1:c.993del	NP_001268666.1:p.Pro333LeufsTer5
NM_001281738.1:c.951del	NP_001268667.1:p.Pro319LeufsTer5
NM_004453.3:c.1134del	NP_004444.2:p.Pro380LeufsTer5
XM_024453935.1:c.951del	XP_024309703.1:p.Pro319LeufsTer5
NM_004453.4:c.1134del MANE Select	NP_004444.2:p.Pro380LeufsTer5
NM_001281737.2:c.993del	NP_001268666.1:p.Pro333LeufsTer5