Canonical Allele Identifier: CA16617520

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 420631
• ClinVar RCV Id: RCV000483023 ; RCV002526581
• dbSNP Id: rs1064794598
• gnomAD v2: 2-26417939-GCT-G
• gnomAD v3: 2-26195070-GCT-G
• gnomAD v4: 2-26195070-GCT-G
• MyVariant Identifiers: chr2:g.26417940_26417941del (hg19) ; chr2:g.26195071_26195072del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26195073_26195074del , CM000664.2:g.26195073_26195074del	GRCh38
NC_000002.11:g.26417942_26417943del , CM000664.1:g.26417942_26417943del	GRCh37
NC_000002.10:g.26271446_26271447del	NCBI36
NG_007121.1:g.54549_54550del
NG_007121.2:g.54550_54551del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1620+20_1620+21del (HADHA) MANE Select	ENSP00000370023.3:n.1620+20_1620+21del
ENST00000492433.2:c.1620+20_1620+21del (HADHA)	ENSP00000438039.2:n.1620+20_1620+21del
ENST00000643057.1:c.*1511+20_*1511+21del (HADHA)	ENSP00000493761.1:n.*1511+20_*1511+21del
ENST00000643063.1:c.*666+20_*666+21del (HADHA)	ENSP00000495353.1:n.*666+20_*666+21del
ENST00000643233.1:c.*1511+20_*1511+21del (HADHA)	ENSP00000493880.1:n.*1511+20_*1511+21del
ENST00000644428.1:c.*244+20_*244+21del (HADHA)	ENSP00000495560.1:n.*244+20_*244+21del
ENST00000645274.1:c.1515+20_1515+21del (HADHA)	ENSP00000493996.1:n.1515+20_1515+21del
ENST00000646031.1:c.979+20_979+21del (HADHA)
ENST00000646483.1:c.1486+20_1486+21del (HADHA)	ENSP00000496185.1:n.1486+20_1486+21del
ENST00000380649.7:c.1620+20_1620+21del (HADHA)	ENSP00000370023.3:n.1620+20_1620+21del
ENST00000492433.1:c.78+20_78+21del (HADHA)	ENSP00000438039.1:n.78+20_78+21del
NM_000182.4:c.1620+20_1620+21del (HADHA)	NP_000173.2:n.1620+20_1620+21del
XM_011532567.1:c.1684-7160_1684-7159del (GAREM2)	XP_011530869.1:n.1684-7160_1684-7159del
XM_011532567.3:c.1684-7160_1684-7159del (GAREM2)	XP_011530869.1:n.1684-7160_1684-7159del
NM_000182.5:c.1620+20_1620+21del (HADHA) MANE Select	NP_000173.2:n.1620+20_1620+21del