Canonical Allele Identifier: CA2658215163

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201278-T-TGA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201278_26201279insGA , CM000664.2:g.26201278_26201279insGA	GRCh38
NC_000002.11:g.26424147_26424148insGA , CM000664.1:g.26424147_26424148insGA	GRCh37
NC_000002.10:g.26277651_26277652insGA	NCBI36
NG_007121.1:g.48342_48343insTC
NG_007121.2:g.48343_48344insTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1262_1263insTC (HADHA) MANE Select	ENSP00000370023.3:p.Glu421AspfsTer10
ENST00000492433.2:c.1262_1263insTC (HADHA)	ENSP00000438039.2:p.Glu421AspfsTer10
ENST00000643057.1:c.*1153_*1154insTC (HADHA)	ENSP00000493761.1:n.*1153_*1154insTC
ENST00000643063.1:c.*308_*309insTC (HADHA)	ENSP00000495353.1:n.*308_*309insTC
ENST00000643233.1:c.*1153_*1154insTC (HADHA)	ENSP00000493880.1:n.*1153_*1154insTC
ENST00000644428.1:c.1262_1263insTC (HADHA)	ENSP00000495560.1:p.Glu421AspfsTer10
ENST00000645274.1:c.1157_1158insTC (HADHA)	ENSP00000493996.1:p.Glu386AspfsTer10
ENST00000646031.1:c.621_622insTC (HADHA)
ENST00000646483.1:c.1128_1129insTC (HADHA)	ENSP00000496185.1:n.1128_1129insTC
ENST00000380649.7:c.1262_1263insTC (HADHA)	ENSP00000370023.3:p.Glu421AspfsTer10
NM_000182.4:c.1262_1263insTC (HADHA)	NP_000173.2:p.Glu421AspfsTer10
XM_011532567.1:c.1684-955_1684-954insGA (GAREM2)	XP_011530869.1:n.1684-955_1684-954insGA
XM_011532567.3:c.1684-955_1684-954insGA (GAREM2)	XP_011530869.1:n.1684-955_1684-954insGA
NM_000182.5:c.1262_1263insTC (HADHA) MANE Select	NP_000173.2:p.Glu421AspfsTer10