Canonical Allele Identifier: CA2580612203

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192340del , CM000664.2:g.26192340del	GRCh38
NC_000002.11:g.26415209del , CM000664.1:g.26415209del	GRCh37
NC_000002.10:g.26268713del	NCBI36
NG_007121.1:g.57281del
NG_007121.2:g.57282del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1970del (HADHA) MANE Select	ENSP00000370023.3:p.Ala657GlyfsTer3
ENST00000492433.2:c.1970del (HADHA)	ENSP00000438039.2:p.Ala657GlyfsTer3
ENST00000643057.1:c.*1861del (HADHA)	ENSP00000493761.1:n.*1861del
ENST00000643063.1:c.*1016del (HADHA)	ENSP00000495353.1:n.*1016del
ENST00000643233.1:c.*1861del (HADHA)	ENSP00000493880.1:n.*1861del
ENST00000644428.1:c.*594del (HADHA)	ENSP00000495560.1:n.*594del
ENST00000645274.1:c.1865del (HADHA)	ENSP00000493996.1:p.Ala622GlyfsTer3
ENST00000646031.1:c.1329del (HADHA)
ENST00000646483.1:c.1836del (HADHA)	ENSP00000496185.1:n.1836del
ENST00000380649.7:c.1970del (HADHA)	ENSP00000370023.3:p.Ala657GlyfsTer3
ENST00000492433.1:c.428del (HADHA)	ENSP00000438039.1:p.Ala143GlyfsTer3
NM_000182.4:c.1970del (HADHA)	NP_000173.2:p.Ala657GlyfsTer3
XM_011532567.1:c.1683+5025del (GAREM2)	XP_011530869.1:n.1683+5025del
XM_011532567.3:c.1683+5025del (GAREM2)	XP_011530869.1:n.1683+5025del
NM_000182.5:c.1970del (HADHA) MANE Select	NP_000173.2:p.Ala657GlyfsTer3