Canonical Allele Identifier: CA658821747

Gene: EHHADH

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.185192581_185192582insC , CM000665.2:g.185192581_185192582insC	GRCh38
NC_000003.11:g.184910369_184910370insC , CM000665.1:g.184910369_184910370insC	GRCh37
NC_000003.10:g.186393063_186393064insC	NCBI36
NG_015999.1:g.66517_66518insG

Transcript Alleles

HGVS	Amino-acid Change
NM_001966.4:c.1816_1817insG MANE Select	NP_001957.2:p.Thr606SerfsTer5
ENST00000231887.8:c.1816_1817insG MANE Select	ENSP00000231887.3:p.Thr606SerfsTer5
NM_001166415.1:c.1528_1529insG	NP_001159887.1:p.Thr510SerfsTer5
NM_001166415.2:c.1528_1529insG	NP_001159887.1:p.Thr510SerfsTer5
NM_001966.3:c.1816_1817insG	NP_001957.2:p.Thr606SerfsTer5
ENST00000231887.7:c.1816_1817insG	ENSP00000231887.3:p.Thr606SerfsTer5
ENST00000456310.5:c.1528_1529insG	ENSP00000387746.1:p.Thr510SerfsTer5
XM_006713525.1:c.1192_1193insG	XP_006713588.1:p.Thr398SerfsTer5
XM_011512517.1:c.1528_1529insG	XP_011510819.1:p.Thr510SerfsTer5