Canonical Allele Identifier: CA1239700732

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191228_26191230delinsCTG , CM000664.2:g.26191228_26191230delinsCTG	GRCh38
NC_000002.11:g.26414097_26414099delinsCTG , CM000664.1:g.26414097_26414099delinsCTG	GRCh37
NC_000002.10:g.26267601_26267603delinsCTG	NCBI36
NG_007121.1:g.58391_58393delinsCAG
NG_007121.2:g.58392_58394delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*20_*22delinsCAG (HADHA) MANE Select	ENSP00000370023.3:n.*20_*22delinsCAG
ENST00000492433.2:c.*20_*22delinsCAG (HADHA)	ENSP00000438039.2:n.*20_*22delinsCAG
ENST00000643057.1:c.*2290_*2292delinsCAG (HADHA)	ENSP00000493761.1:n.*2290_*2292delinsCAG
ENST00000643063.1:c.*1358_*1360delinsCAG (HADHA)	ENSP00000495353.1:n.*1358_*1360delinsCAG
ENST00000643233.1:c.*2203_*2205delinsCAG (HADHA)	ENSP00000493880.1:n.*2203_*2205delinsCAG
ENST00000644428.1:c.*936_*938delinsCAG (HADHA)	ENSP00000495560.1:n.*936_*938delinsCAG
ENST00000645274.1:c.*20_*22delinsCAG (HADHA)	ENSP00000493996.1:n.*20_*22delinsCAG
ENST00000646031.1:c.1671_1673delinsCAG (HADHA)
ENST00000380649.7:c.*20_*22delinsCAG (HADHA)	ENSP00000370023.3:n.*20_*22delinsCAG
NM_000182.4:c.*20_*22delinsCAG (HADHA)	NP_000173.2:n.*20_*22delinsCAG
XM_011532567.1:c.1683+3913_1683+3915delinsCTG (GAREM2)	XP_011530869.1:n.1683+3913_1683+3915delinsCTG
XM_011532567.3:c.1683+3913_1683+3915delinsCTG (GAREM2)	XP_011530869.1:n.1683+3913_1683+3915delinsCTG
NM_000182.5:c.*20_*22delinsCAG (HADHA) MANE Select	NP_000173.2:n.*20_*22delinsCAG