Canonical Allele Identifier: CA531761310

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 845656
• ClinVar RCV Id: RCV001048765 ; RCV003462541
• dbSNP Id: rs1278248464
• gnomAD v2: 2-26416609-CAG-C
• gnomAD v4: 2-26193740-CAG-C
• MyVariant Identifiers: chr2:g.26416610_26416611del (hg19) ; chr2:g.26193741_26193742del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193741_26193742del , CM000664.2:g.26193741_26193742del	GRCh38
NC_000002.11:g.26416610_26416611del , CM000664.1:g.26416610_26416611del	GRCh37
NC_000002.10:g.26270114_26270115del	NCBI36
NG_007121.1:g.55879_55880del
NG_007121.2:g.55880_55881del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1720_1721del (HADHA) MANE Select	ENSP00000370023.3:p.Leu574AspfsTer16
ENST00000492433.2:c.1720_1721del (HADHA)	ENSP00000438039.2:p.Leu574AspfsTer16
ENST00000643057.1:c.*1611_*1612del (HADHA)	ENSP00000493761.1:n.*1611_*1612del
ENST00000643063.1:c.*766_*767del (HADHA)	ENSP00000495353.1:n.*766_*767del
ENST00000643233.1:c.*1611_*1612del (HADHA)	ENSP00000493880.1:n.*1611_*1612del
ENST00000644428.1:c.*344_*345del (HADHA)	ENSP00000495560.1:n.*344_*345del
ENST00000645274.1:c.1615_1616del (HADHA)	ENSP00000493996.1:p.Leu539AspfsTer16
ENST00000646031.1:c.1079_1080del (HADHA)
ENST00000646483.1:c.1586_1587del (HADHA)	ENSP00000496185.1:n.1586_1587del
ENST00000380649.7:c.1720_1721del (HADHA)	ENSP00000370023.3:p.Leu574AspfsTer16
ENST00000492433.1:c.178_179del (HADHA)	ENSP00000438039.1:p.Leu60AspfsTer16
NM_000182.4:c.1720_1721del (HADHA)	NP_000173.2:p.Leu574AspfsTer16
XM_011532567.1:c.1683+6426_1683+6427del (GAREM2)	XP_011530869.1:n.1683+6426_1683+6427del
XM_011532567.3:c.1683+6426_1683+6427del (GAREM2)	XP_011530869.1:n.1683+6426_1683+6427del
NM_000182.5:c.1720_1721del (HADHA) MANE Select	NP_000173.2:p.Leu574AspfsTer16