Canonical Allele Identifier: CA913090344
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26195087_26195092del , CM000664.2:g.26195087_26195092del GRCh38
NC_000002.11:g.26417956_26417961del , CM000664.1:g.26417956_26417961del GRCh37
NC_000002.10:g.26271460_26271465del NCBI36
NG_007121.1:g.54531_54536del
NG_007121.2:g.54532_54537del

Transcript Alleles

HGVS Amino-acid Change
ENST00000380649.8:c.1620+2_1620+7del (HADHA)
ENST00000492433.2:c.1620+2_1620+7del (HADHA)
ENST00000643057.1:c.*1511+2_*1511+7del (HADHA)
ENST00000643063.1:c.*666+2_*666+7del (HADHA)
ENST00000643233.1:c.*1511+2_*1511+7del (HADHA)
ENST00000644428.1:c.*244+2_*244+7del (HADHA)
ENST00000645274.1:c.1515+2_1515+7del (HADHA)
ENST00000646031.1:c.979+2_979+7del (HADHA)
ENST00000646483.1:c.1486+2_1486+7del (HADHA)
ENST00000380649.7:c.1620+2_1620+7del (HADHA)
ENST00000492433.1:c.78+2_78+7del (HADHA)
NM_000182.4:c.1620+2_1620+7del (HADHA)
XM_011532567.1:c.1684-7146_1684-7141del (GAREM2) XP_011530869.1:n.1684-7146_1684-7141del
XM_011532567.3:c.1684-7146_1684-7141del (GAREM2) XP_011530869.1:n.1684-7146_1684-7141del
NM_000182.5:c.1620+2_1620+7del (HADHA)