Canonical Allele Identifier: CA2658214296

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191005-GGCCTCGGGGCTTATACAATGAGCAGTGGGCTCTACCTTCCAACAGGAAGTGCAAACTAATTCGAAGTCACACTTCACCAGGAGGGAGAGATGGTCTTGGCTGAAGGCACTTTAATCAGGGAGCAAACCCAGTGCCGGAGTTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191007_26191148del , CM000664.2:g.26191007_26191148del	GRCh38
NC_000002.11:g.26413876_26414017del , CM000664.1:g.26413876_26414017del	GRCh37
NC_000002.10:g.26267380_26267521del	NCBI36
NG_007121.1:g.58474_58615del
NG_007121.2:g.58475_58616del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*103_*244del (HADHA) MANE Select	ENSP00000370023.3:n.*103_*244del
ENST00000492433.2:c.*103_*244del (HADHA)	ENSP00000438039.2:n.*103_*244del
ENST00000643057.1:c.*2373_*2514del (HADHA)	ENSP00000493761.1:n.*2373_*2514del
ENST00000643063.1:c.*1441_*1582del (HADHA)	ENSP00000495353.1:n.*1441_*1582del
ENST00000643233.1:c.*2286_*2427del (HADHA)	ENSP00000493880.1:n.*2286_*2427del
ENST00000644428.1:c.*1019_*1160del (HADHA)	ENSP00000495560.1:n.*1019_*1160del
ENST00000645274.1:c.*103_*244del (HADHA)	ENSP00000493996.1:n.*103_*244del
ENST00000380649.7:c.*103_*244del (HADHA)	ENSP00000370023.3:n.*103_*244del
NM_000182.4:c.*103_*244del (HADHA)	NP_000173.2:n.*103_*244del
XM_011532567.1:c.1683+3692_1683+3833del (GAREM2)	XP_011530869.1:n.1683+3692_1683+3833del
XM_011532567.3:c.1683+3692_1683+3833del (GAREM2)	XP_011530869.1:n.1683+3692_1683+3833del
NM_000182.5:c.*103_*244del (HADHA) MANE Select	NP_000173.2:n.*103_*244del