Canonical Allele Identifier: CA2672512956

Gene: ETFDH

Linked Data

• gnomAD v4: 4-158680425-CTAATT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158680427_158680431del , CM000666.2:g.158680427_158680431del	GRCh38
NC_000004.11:g.159601579_159601583del , CM000666.1:g.159601579_159601583del	GRCh37
NC_000004.10:g.159821029_159821033del	NCBI36
NG_007078.2:g.13086_13090del

Transcript Alleles

HGVS	Amino-acid change
ENST00000436096.3:n.286-40_286-36del
ENST00000507475.6:n.179-4165_179-4161del
ENST00000681978.1:n.244_248del
ENST00000682178.1:n.60-40_60-36del
ENST00000682345.1:c.35-101_35-97del	ENSP00000508122.1:n.35-101_35-97del
ENST00000682409.1:n.144-40_144-36del
ENST00000682452.1:n.326_330del
ENST00000682456.1:c.35-40_35-36del	ENSP00000508240.1:n.35-40_35-36del
ENST00000682601.1:n.226-40_226-36del
ENST00000682734.1:c.-649-4165_-649-4161del	ENSP00000507860.1:n.-649-4165_-649-4161de...
ENST00000682820.1:n.72-40_72-36del
ENST00000682910.1:n.302_306del
ENST00000683004.1:c.35-40_35-36del	ENSP00000506936.1:n.35-40_35-36del
ENST00000683079.1:c.35-40_35-36del	ENSP00000507296.1:n.35-40_35-36del
ENST00000683081.1:c.35-40_35-36del	ENSP00000507722.1:n.35-40_35-36del
ENST00000683305.1:c.-52-1144_-52-1140del	ENSP00000508043.1:n.-52-1144_-52-1140del
ENST00000683448.1:c.-90-4165_-90-4161del	ENSP00000506931.1:n.-90-4165_-90-4161del
ENST00000683478.1:c.35-40_35-36del	ENSP00000507793.1:n.35-40_35-36del
ENST00000683483.1:c.35-40_35-36del	ENSP00000507719.1:n.35-40_35-36del
ENST00000683750.1:n.158-40_158-36del
ENST00000683751.1:c.-90-4165_-90-4161del	ENSP00000506944.1:n.-90-4165_-90-4161del
ENST00000683799.1:n.304_308del
ENST00000684036.1:c.-149-40_-149-36del	ENSP00000507276.1:n.-149-40_-149-36del
ENST00000684129.1:c.-694-4165_-694-4161del	ENSP00000507174.1:n.-694-4165_-694-4161de...
ENST00000684209.1:n.235_239del
ENST00000684296.1:c.35-40_35-36del	ENSP00000507740.1:n.35-40_35-36del
ENST00000684505.1:c.35-40_35-36del	ENSP00000508237.1:n.35-40_35-36del
ENST00000684552.1:c.35-40_35-36del	ENSP00000506899.1:n.35-40_35-36del
ENST00000684611.1:n.176-40_176-36del
ENST00000684622.1:c.35-40_35-36del	ENSP00000507546.1:n.35-40_35-36del
ENST00000684627.1:c.-149-40_-149-36del	ENSP00000507471.1:n.-149-40_-149-36del
ENST00000684641.1:c.35-40_35-36del	ENSP00000507642.1:n.35-40_35-36del
ENST00000684675.1:c.35-40_35-36del	ENSP00000506934.1:n.35-40_35-36del
ENST00000684749.1:n.60-40_60-36del
ENST00000511912.6:c.35-40_35-36del MANE Select	ENSP00000426638.1:n.35-40_35-36del
ENST00000307738.5:c.35-1768_35-1764del	ENSP00000303552.5:n.35-1768_35-1764del
ENST00000436096.2:n.176-40_176-36del
ENST00000506422.1:n.86+7937_86+7941del
ENST00000507475.5:c.-90-4165_-90-4161del	ENSP00000422735.1:n.-90-4165_-90-4161del
ENST00000511912.5:c.35-40_35-36del	ENSP00000426638.1:n.35-40_35-36del
ENST00000512251.5:c.35-101_35-97del	ENSP00000425661.1:n.35-101_35-97del
NM_001281737.1:c.35-1768_35-1764del	NP_001268666.1:n.35-1768_35-1764del
NM_004453.3:c.35-40_35-36del	NP_004444.2:n.35-40_35-36del
XM_024453935.1:c.-149-40_-149-36del	XP_024309703.1:n.-149-40_-149-36del
NM_004453.4:c.35-40_35-36del MANE Select	NP_004444.2:n.35-40_35-36del
NM_001281737.2:c.35-1768_35-1764del	NP_001268666.1:n.35-1768_35-1764del