Canonical Allele Identifier: CA16040873
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371082
ClinVar RCV Id: RCV000410644
dbSNP Id: rs1057516991

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26195122del , CM000664.2:g.26195122del GRCh38
NC_000002.11:g.26417991del , CM000664.1:g.26417991del GRCh37
NC_000002.10:g.26271495del NCBI36
NG_007121.1:g.54499del
NG_007121.2:g.54500del

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1590del (HADHA) MANE Select ENSP00000370023.3:p.Lys531SerfsTer24
ENST00000492433.2:c.1590del (HADHA) ENSP00000438039.2:p.Lys531SerfsTer24
ENST00000643057.1:c.*1481del (HADHA) ENSP00000493761.1:n.*1481del
ENST00000643063.1:c.*636del (HADHA) ENSP00000495353.1:n.*636del
ENST00000643233.1:c.*1481del (HADHA) ENSP00000493880.1:n.*1481del
ENST00000644428.1:c.*214del (HADHA) ENSP00000495560.1:n.*214del
ENST00000645274.1:c.1485del (HADHA) ENSP00000493996.1:p.Lys496SerfsTer24
ENST00000646031.1:c.949del (HADHA)
ENST00000646483.1:c.1456del (HADHA) ENSP00000496185.1:n.1456del
ENST00000380649.7:c.1590del (HADHA) ENSP00000370023.3:p.Lys531SerfsTer24
ENST00000492433.1:c.48del (HADHA) ENSP00000438039.1:p.Lys17SerfsTer24
NM_000182.4:c.1590del (HADHA) NP_000173.2:p.Lys531SerfsTer24
XM_011532567.1:c.1684-7111del (GAREM2) XP_011530869.1:n.1684-7111del
XM_011532567.3:c.1684-7111del (GAREM2) XP_011530869.1:n.1684-7111del
NM_000182.5:c.1590del (HADHA) MANE Select NP_000173.2:p.Lys531SerfsTer24