Canonical Allele Identifier: CA2576696697

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26194992del , CM000664.2:g.26194992del	GRCh38
NC_000002.11:g.26417861del , CM000664.1:g.26417861del	GRCh37
NC_000002.10:g.26271365del	NCBI36
NG_007121.1:g.54629del
NG_007121.2:g.54630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+100del (HADHA) MANE Select	ENSP00000370023.3:n.1620+100del
ENST00000492433.2:c.1620+100del (HADHA)	ENSP00000438039.2:n.1620+100del
ENST00000643057.1:c.*1511+100del (HADHA)	ENSP00000493761.1:n.*1511+100del
ENST00000643063.1:c.*666+100del (HADHA)	ENSP00000495353.1:n.*666+100del
ENST00000643233.1:c.*1511+100del (HADHA)	ENSP00000493880.1:n.*1511+100del
ENST00000644428.1:c.*244+100del (HADHA)	ENSP00000495560.1:n.*244+100del
ENST00000645274.1:c.1515+100del (HADHA)	ENSP00000493996.1:n.1515+100del
ENST00000646031.1:c.979+100del (HADHA)
ENST00000646483.1:c.1486+100del (HADHA)	ENSP00000496185.1:n.1486+100del
ENST00000380649.7:c.1620+100del (HADHA)	ENSP00000370023.3:n.1620+100del
ENST00000492433.1:c.78+100del (HADHA)	ENSP00000438039.1:n.78+100del
NM_000182.4:c.1620+100del (HADHA)	NP_000173.2:n.1620+100del
XM_011532567.1:c.1684-7241del (GAREM2)	XP_011530869.1:n.1684-7241del
XM_011532567.3:c.1684-7241del (GAREM2)	XP_011530869.1:n.1684-7241del
NM_000182.5:c.1620+100del (HADHA) MANE Select	NP_000173.2:n.1620+100del