Canonical Allele Identifier: CA1028585688

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669494129
• gnomAD v3: 2-26191401-TAGAG-T
• gnomAD v4: 2-26191401-TAGAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191403_26191406del , CM000664.2:g.26191403_26191406del	GRCh38
NC_000002.11:g.26414272_26414275del , CM000664.1:g.26414272_26414275del	GRCh37
NC_000002.10:g.26267776_26267779del	NCBI36
NG_007121.1:g.58216_58219del
NG_007121.2:g.58217_58220del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2147-10_2147-7del (HADHA) MANE Select	ENSP00000370023.3:n.2147-10_2147-7del
ENST00000492433.2:c.2224_2227del (HADHA)	ENSP00000438039.2:p.Leu742IlefsTer16
ENST00000643057.1:c.*2115_*2118del (HADHA)	ENSP00000493761.1:n.*2115_*2118del
ENST00000643063.1:c.*1193-10_*1193-7del (HADHA)	ENSP00000495353.1:n.*1193-10_*1193-7del
ENST00000643233.1:c.*2038-10_*2038-7del (HADHA)	ENSP00000493880.1:n.*2038-10_*2038-7del
ENST00000644428.1:c.*771-10_*771-7del (HADHA)	ENSP00000495560.1:n.*771-10_*771-7del
ENST00000645274.1:c.2042-10_2042-7del (HADHA)	ENSP00000493996.1:n.2042-10_2042-7del
ENST00000646031.1:c.1506-10_1506-7del (HADHA)
ENST00000646483.1:c.2013-10_2013-7del (HADHA)	ENSP00000496185.1:n.2013-10_2013-7del
ENST00000380649.7:c.2147-10_2147-7del (HADHA)	ENSP00000370023.3:n.2147-10_2147-7del
ENST00000492433.1:c.682_685del (HADHA)	ENSP00000438039.1:p.Leu228IlefsTer16
NM_000182.4:c.2147-10_2147-7del (HADHA)	NP_000173.2:n.2147-10_2147-7del
XM_011532567.1:c.1683+4088_1683+4091del (GAREM2)	XP_011530869.1:n.1683+4088_1683+4091del
XM_011532567.3:c.1683+4088_1683+4091del (GAREM2)	XP_011530869.1:n.1683+4088_1683+4091del
NM_000182.5:c.2147-10_2147-7del (HADHA) MANE Select	NP_000173.2:n.2147-10_2147-7del