Canonical Allele Identifier: CA1239700671

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191121_26191123delinsCAG , CM000664.2:g.26191121_26191123delinsCAG	GRCh38
NC_000002.11:g.26413990_26413992delinsCAG , CM000664.1:g.26413990_26413992delinsCAG	GRCh37
NC_000002.10:g.26267494_26267496delinsCAG	NCBI36
NG_007121.1:g.58498_58500delinsCTG
NG_007121.2:g.58499_58501delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*127_*129delinsCTG (HADHA) MANE Select	ENSP00000370023.3:n.*127_*129delinsCTG
ENST00000492433.2:c.*127_*129delinsCTG (HADHA)	ENSP00000438039.2:n.*127_*129delinsCTG
ENST00000643057.1:c.*2397_*2399delinsCTG (HADHA)	ENSP00000493761.1:n.*2397_*2399delinsCTG
ENST00000643063.1:c.*1465_*1467delinsCTG (HADHA)	ENSP00000495353.1:n.*1465_*1467delinsCTG
ENST00000643233.1:c.*2310_*2312delinsCTG (HADHA)	ENSP00000493880.1:n.*2310_*2312delinsCTG
ENST00000644428.1:c.*1043_*1045delinsCTG (HADHA)	ENSP00000495560.1:n.*1043_*1045delinsCTG
ENST00000645274.1:c.*127_*129delinsCTG (HADHA)	ENSP00000493996.1:n.*127_*129delinsCTG
ENST00000646031.1:c.1778_1780delinsCTG (HADHA)
ENST00000380649.7:c.*127_*129delinsCTG (HADHA)	ENSP00000370023.3:n.*127_*129delinsCTG
NM_000182.4:c.*127_*129delinsCTG (HADHA)	NP_000173.2:n.*127_*129delinsCTG
XM_011532567.1:c.1683+3806_1683+3808delinsCAG (GAREM2)	XP_011530869.1:n.1683+3806_1683+3808delinsCAG
XM_011532567.3:c.1683+3806_1683+3808delinsCAG (GAREM2)	XP_011530869.1:n.1683+3806_1683+3808delinsCAG
NM_000182.5:c.*127_*129delinsCTG (HADHA) MANE Select	NP_000173.2:n.*127_*129delinsCTG