Canonical Allele Identifier: CA789733543

Gene: ETFDH

Linked Data

• dbSNP Id: rs1427146635
• MyVariant Identifiers: chr4:g.159624499_159624505del (hg19) ; chr4:g.158703347_158703353del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.158703348_158703354del , CM000666.2:g.158703348_158703354del	GRCh38
NC_000004.11:g.159624500_159624506del , CM000666.1:g.159624500_159624506del	GRCh37
NC_000004.10:g.159843950_159843956del	NCBI36
NG_007078.2:g.36007_36013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000681978.1:n.2653-75_2653-69del
ENST00000682178.1:n.2149-75_2149-69del
ENST00000682345.1:c.*817-75_*817-69del	ENSP00000508122.1:n.*817-75_*817-69del
ENST00000682452.1:n.1448-75_1448-69del
ENST00000682456.1:c.976-75_976-69del	ENSP00000508240.1:n.976-75_976-69del
ENST00000682566.1:n.1900-75_1900-69del
ENST00000682613.1:n.1429-75_1429-69del
ENST00000682734.1:c.-57-75_-57-69del	ENSP00000507860.1:n.-57-75_-57-69del
ENST00000682820.1:n.1154-75_1154-69del
ENST00000683004.1:c.*810-75_*810-69del	ENSP00000506936.1:n.*810-75_*810-69del
ENST00000683079.1:c.*542-75_*542-69del	ENSP00000507296.1:n.*542-75_*542-69del
ENST00000683081.1:c.*954-75_*954-69del	ENSP00000507722.1:n.*954-75_*954-69del
ENST00000683181.1:n.396-75_396-69del
ENST00000683209.1:n.3368_3374del
ENST00000683305.1:c.934-75_934-69del	ENSP00000508043.1:n.934-75_934-69del
ENST00000683448.1:c.*37-75_*37-69del	ENSP00000506931.1:n.*37-75_*37-69del
ENST00000683478.1:c.*468-75_*468-69del	ENSP00000507793.1:n.*468-75_*468-69del
ENST00000683483.1:c.973-75_973-69del	ENSP00000507719.1:n.973-75_973-69del
ENST00000683622.1:n.756_762del
ENST00000683751.1:c.622-75_622-69del	ENSP00000506944.1:n.622-75_622-69del
ENST00000684036.1:c.934-75_934-69del	ENSP00000507276.1:n.934-75_934-69del
ENST00000684129.1:c.-57-75_-57-69del	ENSP00000507174.1:n.-57-75_-57-69del
ENST00000684209.1:n.1492-75_1492-69del
ENST00000684296.1:c.*37-75_*37-69del	ENSP00000507740.1:n.*37-75_*37-69del
ENST00000684505.1:c.1066-75_1066-69del	ENSP00000508237.1:n.1066-75_1066-69del
ENST00000684552.1:c.*37-75_*37-69del	ENSP00000506899.1:n.*37-75_*37-69del
ENST00000684611.1:n.2845-75_2845-69del
ENST00000684622.1:c.1117-75_1117-69del	ENSP00000507546.1:n.1117-75_1117-69del
ENST00000684627.1:c.934-75_934-69del	ENSP00000507471.1:n.934-75_934-69del
ENST00000684641.1:c.832-75_832-69del	ENSP00000507642.1:n.832-75_832-69del
ENST00000684675.1:c.1158-75_1158-69del	ENSP00000506934.1:n.1158-75_1158-69del
ENST00000684749.1:n.1186-75_1186-69del
ENST00000511912.6:c.1117-75_1117-69del MANE Select	ENSP00000426638.1:n.1117-75_1117-69del
ENST00000307738.5:c.976-75_976-69del	ENSP00000303552.5:n.976-75_976-69del
ENST00000506422.1:n.87-75_87-69del
ENST00000511912.5:c.1117-75_1117-69del	ENSP00000426638.1:n.1117-75_1117-69del
NM_001281737.1:c.976-75_976-69del	NP_001268666.1:n.976-75_976-69del
NM_001281738.1:c.934-75_934-69del	NP_001268667.1:n.934-75_934-69del
NM_004453.3:c.1117-75_1117-69del	NP_004444.2:n.1117-75_1117-69del
XM_024453935.1:c.934-75_934-69del	XP_024309703.1:n.934-75_934-69del
NM_004453.4:c.1117-75_1117-69del MANE Select	NP_004444.2:n.1117-75_1117-69del
NM_001281737.2:c.976-75_976-69del	NP_001268666.1:n.976-75_976-69del