Canonical Allele Identifier: CA2749232870

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195066_26195067del , CM000664.2:g.26195066_26195067del	GRCh38
NC_000002.11:g.26417935_26417936del , CM000664.1:g.26417935_26417936del	GRCh37
NC_000002.10:g.26271439_26271440del	NCBI36
NG_007121.1:g.54554_54555del
NG_007121.2:g.54555_54556del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+25_1620+26del (HADHA) MANE Select	ENSP00000370023.3:n.1620+25_1620+26del
ENST00000492433.2:c.1620+25_1620+26del (HADHA)	ENSP00000438039.2:n.1620+25_1620+26del
ENST00000643057.1:c.*1511+25_*1511+26del (HADHA)	ENSP00000493761.1:n.*1511+25_*1511+26del
ENST00000643063.1:c.*666+25_*666+26del (HADHA)	ENSP00000495353.1:n.*666+25_*666+26del
ENST00000643233.1:c.*1511+25_*1511+26del (HADHA)	ENSP00000493880.1:n.*1511+25_*1511+26del
ENST00000644428.1:c.*244+25_*244+26del (HADHA)	ENSP00000495560.1:n.*244+25_*244+26del
ENST00000645274.1:c.1515+25_1515+26del (HADHA)	ENSP00000493996.1:n.1515+25_1515+26del
ENST00000646031.1:c.979+25_979+26del (HADHA)
ENST00000646483.1:c.1486+25_1486+26del (HADHA)	ENSP00000496185.1:n.1486+25_1486+26del
ENST00000380649.7:c.1620+25_1620+26del (HADHA)	ENSP00000370023.3:n.1620+25_1620+26del
ENST00000492433.1:c.78+25_78+26del (HADHA)	ENSP00000438039.1:n.78+25_78+26del
NM_000182.4:c.1620+25_1620+26del (HADHA)	NP_000173.2:n.1620+25_1620+26del
XM_011532567.1:c.1684-7167_1684-7166del (GAREM2)	XP_011530869.1:n.1684-7167_1684-7166del
XM_011532567.3:c.1684-7167_1684-7166del (GAREM2)	XP_011530869.1:n.1684-7167_1684-7166del
NM_000182.5:c.1620+25_1620+26del (HADHA) MANE Select	NP_000173.2:n.1620+25_1620+26del