Canonical Allele Identifier: CA916495824

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1558315387
• gnomAD v4: 2-26195062-ACT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195065_26195066del , CM000664.2:g.26195065_26195066del	GRCh38
NC_000002.11:g.26417934_26417935del , CM000664.1:g.26417934_26417935del	GRCh37
NC_000002.10:g.26271438_26271439del	NCBI36
NG_007121.1:g.54557_54558del
NG_007121.2:g.54558_54559del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+28_1620+29del (HADHA) MANE Select	ENSP00000370023.3:n.1620+28_1620+29del
ENST00000492433.2:c.1620+28_1620+29del (HADHA)	ENSP00000438039.2:n.1620+28_1620+29del
ENST00000643057.1:c.*1511+28_*1511+29del (HADHA)	ENSP00000493761.1:n.*1511+28_*1511+29del
ENST00000643063.1:c.*666+28_*666+29del (HADHA)	ENSP00000495353.1:n.*666+28_*666+29del
ENST00000643233.1:c.*1511+28_*1511+29del (HADHA)	ENSP00000493880.1:n.*1511+28_*1511+29del
ENST00000644428.1:c.*244+28_*244+29del (HADHA)	ENSP00000495560.1:n.*244+28_*244+29del
ENST00000645274.1:c.1515+28_1515+29del (HADHA)	ENSP00000493996.1:n.1515+28_1515+29del
ENST00000646031.1:c.979+28_979+29del (HADHA)
ENST00000646483.1:c.1486+28_1486+29del (HADHA)	ENSP00000496185.1:n.1486+28_1486+29del
ENST00000380649.7:c.1620+28_1620+29del (HADHA)	ENSP00000370023.3:n.1620+28_1620+29del
ENST00000492433.1:c.78+28_78+29del (HADHA)	ENSP00000438039.1:n.78+28_78+29del
NM_000182.4:c.1620+28_1620+29del (HADHA)	NP_000173.2:n.1620+28_1620+29del
XM_011532567.1:c.1684-7168_1684-7167del (GAREM2)	XP_011530869.1:n.1684-7168_1684-7167del
XM_011532567.3:c.1684-7168_1684-7167del (GAREM2)	XP_011530869.1:n.1684-7168_1684-7167del
NM_000182.5:c.1620+28_1620+29del (HADHA) MANE Select	NP_000173.2:n.1620+28_1620+29del