Canonical Allele Identifier: CA2739353

Gene: EHHADH

Linked Data

• dbSNP Id: rs760697866
• ExAC: 3:184971756 GGTTTCGGAGGCGGATTAGCGCCAAGGC / G
• gnomAD v2: 3-184971756-GGTTTCGGAGGCGGATTAGCGCCAAGGC-G
• gnomAD v3: 3-185253968-GGTTTCGGAGGCGGATTAGCGCCAAGGC-G
• gnomAD v4: 3-185253968-GGTTTCGGAGGCGGATTAGCGCCAAGGC-G
• MyVariant Identifiers: chr3:g.184971757_184971783del (hg19) ; chr3:g.185253969_185253995del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185253972_185253998del , CM000665.2:g.185253972_185253998del	GRCh38
NC_000003.11:g.184971760_184971786del , CM000665.1:g.184971760_184971786del	GRCh37
NC_000003.10:g.186454454_186454480del	NCBI36
NG_015999.1:g.5104_5130del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000231887.8:c.28_54del MANE Select	ENSP00000231887.3:p.Ala10_Asn18del
ENST00000231887.7:c.28_54del	ENSP00000231887.3:p.Ala10_Asn18del
ENST00000440662.1:c.28_54del	ENSP00000396798.1:p.Ala10_Asn18del
ENST00000456310.5:c.-384_-358del	ENSP00000387746.1:n.-384_-358del
ENST00000465178.1:n.228-5478_228-5452del
ENST00000475987.1:n.55_81del
NM_001166415.1:c.-384_-358del	NP_001159887.1:n.-384_-358del
NM_001966.3:c.28_54del	NP_001957.2:p.Ala10_Asn18del
XM_006713525.1:c.-628_-602del	XP_006713588.1:n.-628_-602del
XM_011512517.1:c.-214-5478_-214-5452del	XP_011510819.1:n.-214-5478_-214-5452del
NM_001966.4:c.28_54del MANE Select	NP_001957.2:p.Ala10_Asn18del
NM_001166415.2:c.-384_-358del	NP_001159887.1:n.-384_-358del