Canonical Allele Identifier: CA2658213175

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26195141-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195143del , CM000664.2:g.26195143del	GRCh38
NC_000002.11:g.26418012del , CM000664.1:g.26418012del	GRCh37
NC_000002.10:g.26271516del	NCBI36
NG_007121.1:g.54479del
NG_007121.2:g.54480del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1570del (HADHA) MANE Select	ENSP00000370023.3:p.Ser524GlnfsTer3
ENST00000492433.2:c.1570del (HADHA)	ENSP00000438039.2:p.Ser524GlnfsTer3
ENST00000643057.1:c.*1461del (HADHA)	ENSP00000493761.1:n.*1461del
ENST00000643063.1:c.*616del (HADHA)	ENSP00000495353.1:n.*616del
ENST00000643233.1:c.*1461del (HADHA)	ENSP00000493880.1:n.*1461del
ENST00000644428.1:c.*194del (HADHA)	ENSP00000495560.1:n.*194del
ENST00000645274.1:c.1465del (HADHA)	ENSP00000493996.1:p.Ser489GlnfsTer3
ENST00000646031.1:c.929del (HADHA)
ENST00000646483.1:c.1436del (HADHA)	ENSP00000496185.1:n.1436del
ENST00000380649.7:c.1570del (HADHA)	ENSP00000370023.3:p.Ser524GlnfsTer3
ENST00000492433.1:c.28del (HADHA)	ENSP00000438039.1:p.Ser10GlnfsTer3
NM_000182.4:c.1570del (HADHA)	NP_000173.2:p.Ser524GlnfsTer3
XM_011532567.1:c.1684-7090del (GAREM2)	XP_011530869.1:n.1684-7090del
XM_011532567.3:c.1684-7090del (GAREM2)	XP_011530869.1:n.1684-7090del
NM_000182.5:c.1570del (HADHA) MANE Select	NP_000173.2:p.Ser524GlnfsTer3