Canonical Allele Identifier: CA2668886232

Gene: EHHADH

Linked Data

• gnomAD v4: 3-185253988-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253990dup , CM000665.2:g.185253990dup	GRCh38
NC_000003.11:g.184971778dup , CM000665.1:g.184971778dup	GRCh37
NC_000003.10:g.186454472dup	NCBI36
NG_015999.1:g.5110dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.34dup MANE Select	ENSP00000231887.3:p.Ala12GlyfsTer20
ENST00000231887.7:c.34dup	ENSP00000231887.3:p.Ala12GlyfsTer20
ENST00000440662.1:c.34dup	ENSP00000396798.1:p.Ala12GlyfsTer20
ENST00000456310.5:c.-378dup	ENSP00000387746.1:n.-378dup
ENST00000465178.1:n.228-5472dup
ENST00000475987.1:n.61dup
NM_001166415.1:c.-378dup	NP_001159887.1:n.-378dup
NM_001966.3:c.34dup	NP_001957.2:p.Ala12GlyfsTer20
XM_006713525.1:c.-622dup	XP_006713588.1:n.-622dup
XM_011512517.1:c.-214-5472dup	XP_011510819.1:n.-214-5472dup
NM_001966.4:c.34dup MANE Select	NP_001957.2:p.Ala12GlyfsTer20
NM_001166415.2:c.-378dup	NP_001159887.1:n.-378dup