Canonical Allele Identifier: CA2764210428
Gene: ETFDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.158680401_158680405del , CM000666.2:g.158680401_158680405del GRCh38
NC_000004.11:g.159601553_159601557del , CM000666.1:g.159601553_159601557del GRCh37
NC_000004.10:g.159821003_159821007del NCBI36
NG_007078.2:g.13060_13064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000436096.3:n.286-66_286-62del
ENST00000507475.6:n.179-4191_179-4187del
ENST00000681978.1:n.218_222del
ENST00000682178.1:n.60-66_60-62del
ENST00000682345.1:c.35-127_35-123del ENSP00000508122.1:n.35-127_35-123del
ENST00000682409.1:n.144-66_144-62del
ENST00000682452.1:n.300_304del
ENST00000682456.1:c.35-66_35-62del ENSP00000508240.1:n.35-66_35-62del
ENST00000682601.1:n.226-66_226-62del
ENST00000682734.1:c.-649-4191_-649-4187del ENSP00000507860.1:n.-649-4191_-649-4187del
ENST00000682820.1:n.72-66_72-62del
ENST00000682910.1:n.276_280del
ENST00000683004.1:c.35-66_35-62del ENSP00000506936.1:n.35-66_35-62del
ENST00000683079.1:c.35-66_35-62del ENSP00000507296.1:n.35-66_35-62del
ENST00000683081.1:c.35-66_35-62del ENSP00000507722.1:n.35-66_35-62del
ENST00000683305.1:c.-52-1170_-52-1166del ENSP00000508043.1:n.-52-1170_-52-1166del
ENST00000683448.1:c.-90-4191_-90-4187del ENSP00000506931.1:n.-90-4191_-90-4187del
ENST00000683478.1:c.35-66_35-62del ENSP00000507793.1:n.35-66_35-62del
ENST00000683483.1:c.35-66_35-62del ENSP00000507719.1:n.35-66_35-62del
ENST00000683750.1:n.158-66_158-62del
ENST00000683751.1:c.-90-4191_-90-4187del ENSP00000506944.1:n.-90-4191_-90-4187del
ENST00000683799.1:n.278_282del
ENST00000684036.1:c.-149-66_-149-62del ENSP00000507276.1:n.-149-66_-149-62del
ENST00000684129.1:c.-694-4191_-694-4187del ENSP00000507174.1:n.-694-4191_-694-4187del
ENST00000684209.1:n.209_213del
ENST00000684296.1:c.35-66_35-62del ENSP00000507740.1:n.35-66_35-62del
ENST00000684505.1:c.35-66_35-62del ENSP00000508237.1:n.35-66_35-62del
ENST00000684552.1:c.35-66_35-62del ENSP00000506899.1:n.35-66_35-62del
ENST00000684611.1:n.176-66_176-62del
ENST00000684622.1:c.35-66_35-62del ENSP00000507546.1:n.35-66_35-62del
ENST00000684627.1:c.-149-66_-149-62del ENSP00000507471.1:n.-149-66_-149-62del
ENST00000684641.1:c.35-66_35-62del ENSP00000507642.1:n.35-66_35-62del
ENST00000684675.1:c.35-66_35-62del ENSP00000506934.1:n.35-66_35-62del
ENST00000684749.1:n.60-66_60-62del
ENST00000511912.6:c.35-66_35-62del MANE Select ENSP00000426638.1:n.35-66_35-62del
ENST00000307738.5:c.35-1794_35-1790del ENSP00000303552.5:n.35-1794_35-1790del
ENST00000436096.2:n.176-66_176-62del
ENST00000506422.1:n.86+7911_86+7915del
ENST00000507475.5:c.-90-4191_-90-4187del ENSP00000422735.1:n.-90-4191_-90-4187del
ENST00000511912.5:c.35-66_35-62del ENSP00000426638.1:n.35-66_35-62del
ENST00000512251.5:c.35-127_35-123del ENSP00000425661.1:n.35-127_35-123del
NM_001281737.1:c.35-1794_35-1790del NP_001268666.1:n.35-1794_35-1790del
NM_004453.3:c.35-66_35-62del NP_004444.2:n.35-66_35-62del
XM_024453935.1:c.-149-66_-149-62del XP_024309703.1:n.-149-66_-149-62del
NM_004453.4:c.35-66_35-62del MANE Select NP_004444.2:n.35-66_35-62del
NM_001281737.2:c.35-1794_35-1790del NP_001268666.1:n.35-1794_35-1790del