Canonical Allele Identifier: CA548429197

Gene: EHHADH

Linked Data

• dbSNP Id: rs1317797498
• gnomAD v2: 3-184972022-C-CA
• gnomAD v3: 3-185254234-C-CA
• gnomAD v4: 3-185254234-C-CA
• MyVariant Identifiers: chr3:g.184972022_184972023insA (hg19) ; chr3:g.185254234_185254235insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185254235dup , CM000665.2:g.185254235dup	GRCh38
NC_000003.11:g.184972023dup , CM000665.1:g.184972023dup	GRCh37
NC_000003.10:g.186454717dup	NCBI36
NG_015999.1:g.4864dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465178.1:n.228-5718dup
XM_011512517.1:c.-214-5718dup	XP_011510819.1:n.-214-5718dup