Canonical Allele Identifier: CA2658211491

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26193660-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193662del , CM000664.2:g.26193662del	GRCh38
NC_000002.11:g.26416531del , CM000664.1:g.26416531del	GRCh37
NC_000002.10:g.26270035del	NCBI36
NG_007121.1:g.55960del
NG_007121.2:g.55961del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1801del (HADHA) MANE Select	ENSP00000370023.3:p.Glu601LysfsTer19
ENST00000492433.2:c.1801del (HADHA)	ENSP00000438039.2:p.Glu601LysfsTer19
ENST00000643057.1:c.*1692del (HADHA)	ENSP00000493761.1:n.*1692del
ENST00000643063.1:c.*847del (HADHA)	ENSP00000495353.1:n.*847del
ENST00000643233.1:c.*1692del (HADHA)	ENSP00000493880.1:n.*1692del
ENST00000644428.1:c.*425del (HADHA)	ENSP00000495560.1:n.*425del
ENST00000645274.1:c.1696del (HADHA)	ENSP00000493996.1:p.Glu566LysfsTer19
ENST00000646031.1:c.1160del (HADHA)
ENST00000646483.1:c.1667del (HADHA)	ENSP00000496185.1:n.1667del
ENST00000380649.7:c.1801del (HADHA)	ENSP00000370023.3:p.Glu601LysfsTer19
ENST00000492433.1:c.259del (HADHA)	ENSP00000438039.1:p.Glu87LysfsTer19
NM_000182.4:c.1801del (HADHA)	NP_000173.2:p.Glu601LysfsTer19
XM_011532567.1:c.1683+6347del (GAREM2)	XP_011530869.1:n.1683+6347del
XM_011532567.3:c.1683+6347del (GAREM2)	XP_011530869.1:n.1683+6347del
NM_000182.5:c.1801del (HADHA) MANE Select	NP_000173.2:p.Glu601LysfsTer19