Canonical Allele Identifier: CA2764211773
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158703325_158703338del , CM000666.2:g.158703325_158703338del GRCh38
NC_000004.11:g.159624477_159624490del , CM000666.1:g.159624477_159624490del GRCh37
NC_000004.10:g.159843927_159843940del NCBI36
NG_007078.2:g.35984_35997del

Transcript Alleles

HGVS Amino-acid change
ENST00000681978.1:n.2653-98_2653-85del
ENST00000682178.1:n.2149-98_2149-85del
ENST00000682345.1:c.*817-98_*817-85del ENSP00000508122.1:n.*817-98_*817-85del
ENST00000682452.1:n.1448-98_1448-85del
ENST00000682456.1:c.976-98_976-85del ENSP00000508240.1:n.976-98_976-85del
ENST00000682566.1:n.1900-98_1900-85del
ENST00000682613.1:n.1429-98_1429-85del
ENST00000682734.1:c.-57-98_-57-85del ENSP00000507860.1:n.-57-98_-57-85del
ENST00000682820.1:n.1154-98_1154-85del
ENST00000683004.1:c.*810-98_*810-85del ENSP00000506936.1:n.*810-98_*810-85del
ENST00000683079.1:c.*542-98_*542-85del ENSP00000507296.1:n.*542-98_*542-85del
ENST00000683081.1:c.*954-98_*954-85del ENSP00000507722.1:n.*954-98_*954-85del
ENST00000683181.1:n.396-98_396-85del
ENST00000683209.1:n.3345_3358del
ENST00000683305.1:c.934-98_934-85del ENSP00000508043.1:n.934-98_934-85del
ENST00000683448.1:c.*37-98_*37-85del ENSP00000506931.1:n.*37-98_*37-85del
ENST00000683478.1:c.*468-98_*468-85del ENSP00000507793.1:n.*468-98_*468-85del
ENST00000683483.1:c.973-98_973-85del ENSP00000507719.1:n.973-98_973-85del
ENST00000683622.1:n.733_746del
ENST00000683751.1:c.622-98_622-85del ENSP00000506944.1:n.622-98_622-85del
ENST00000684036.1:c.934-98_934-85del ENSP00000507276.1:n.934-98_934-85del
ENST00000684129.1:c.-57-98_-57-85del ENSP00000507174.1:n.-57-98_-57-85del
ENST00000684209.1:n.1492-98_1492-85del
ENST00000684296.1:c.*37-98_*37-85del ENSP00000507740.1:n.*37-98_*37-85del
ENST00000684505.1:c.1066-98_1066-85del ENSP00000508237.1:n.1066-98_1066-85del
ENST00000684552.1:c.*37-98_*37-85del ENSP00000506899.1:n.*37-98_*37-85del
ENST00000684611.1:n.2845-98_2845-85del
ENST00000684622.1:c.1117-98_1117-85del ENSP00000507546.1:n.1117-98_1117-85del
ENST00000684627.1:c.934-98_934-85del ENSP00000507471.1:n.934-98_934-85del
ENST00000684641.1:c.832-98_832-85del ENSP00000507642.1:n.832-98_832-85del
ENST00000684675.1:c.1158-98_1158-85del ENSP00000506934.1:n.1158-98_1158-85del
ENST00000684749.1:n.1186-98_1186-85del
ENST00000511912.6:c.1117-98_1117-85del MANE Select ENSP00000426638.1:n.1117-98_1117-85del
ENST00000307738.5:c.976-98_976-85del ENSP00000303552.5:n.976-98_976-85del
ENST00000506422.1:n.87-98_87-85del
ENST00000511912.5:c.1117-98_1117-85del ENSP00000426638.1:n.1117-98_1117-85del
NM_001281737.1:c.976-98_976-85del NP_001268666.1:n.976-98_976-85del
NM_001281738.1:c.934-98_934-85del NP_001268667.1:n.934-98_934-85del
NM_004453.3:c.1117-98_1117-85del NP_004444.2:n.1117-98_1117-85del
XM_024453935.1:c.934-98_934-85del XP_024309703.1:n.934-98_934-85del
NM_004453.4:c.1117-98_1117-85del MANE Select NP_004444.2:n.1117-98_1117-85del
NM_001281737.2:c.976-98_976-85del NP_001268666.1:n.976-98_976-85del