Canonical Allele Identifier: CA1239701924

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193667_26193669delinsCAT , CM000664.2:g.26193667_26193669delinsCAT	GRCh38
NC_000002.11:g.26416536_26416538delinsCAT , CM000664.1:g.26416536_26416538delinsCAT	GRCh37
NC_000002.10:g.26270040_26270042delinsCAT	NCBI36
NG_007121.1:g.55952_55954delinsATG
NG_007121.2:g.55953_55955delinsATG

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1793_1795delinsATG (HADHA) MANE Select	ENSP00000370023.3:p.His598=
ENST00000492433.2:c.1793_1795delinsATG (HADHA)	ENSP00000438039.2:p.His598=
ENST00000643057.1:c.*1684_*1686delinsATG (HADHA)	ENSP00000493761.1:n.*1684_*1686delinsATG
ENST00000643063.1:c.*839_*841delinsATG (HADHA)	ENSP00000495353.1:n.*839_*841delinsATG
ENST00000643233.1:c.*1684_*1686delinsATG (HADHA)	ENSP00000493880.1:n.*1684_*1686delinsATG
ENST00000644428.1:c.*417_*419delinsATG (HADHA)	ENSP00000495560.1:n.*417_*419delinsATG
ENST00000645274.1:c.1688_1690delinsATG (HADHA)	ENSP00000493996.1:p.His563=
ENST00000646031.1:c.1152_1154delinsATG (HADHA)
ENST00000646483.1:c.1659_1661delinsATG (HADHA)	ENSP00000496185.1:n.1659_1661delinsATG
ENST00000380649.7:c.1793_1795delinsATG (HADHA)	ENSP00000370023.3:p.His598=
ENST00000492433.1:c.251_253delinsATG (HADHA)	ENSP00000438039.1:p.His84=
NM_000182.4:c.1793_1795delinsATG (HADHA)	NP_000173.2:p.His598=
XM_011532567.1:c.1683+6352_1683+6354delinsCAT (GAREM2)	XP_011530869.1:n.1683+6352_1683+6354delin...
XM_011532567.3:c.1683+6352_1683+6354delinsCAT (GAREM2)	XP_011530869.1:n.1683+6352_1683+6354delin...
NM_000182.5:c.1793_1795delinsATG (HADHA) MANE Select	NP_000173.2:p.His598=