Canonical Allele Identifier: CA531391404

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1325591198
• gnomAD v2: 2-26415253-ACCCTCC-A
• gnomAD v4: 2-26192384-ACCCTCC-A
• MyVariant Identifiers: chr2:g.26415254_26415259del (hg19) ; chr2:g.26192385_26192390del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192385_26192390del , CM000664.2:g.26192385_26192390del	GRCh38
NC_000002.11:g.26415254_26415259del , CM000664.1:g.26415254_26415259del	GRCh37
NC_000002.10:g.26268758_26268763del	NCBI36
NG_007121.1:g.57231_57236del
NG_007121.2:g.57232_57237del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1920_1925del (HADHA) MANE Select	ENSP00000370023.3:p.Gln640_Gly642delinsHis
ENST00000492433.2:c.1920_1925del (HADHA)	ENSP00000438039.2:p.Gln640_Gly642delinsHis
ENST00000643057.1:c.*1811_*1816del (HADHA)	ENSP00000493761.1:n.*1811_*1816del
ENST00000643063.1:c.*966_*971del (HADHA)	ENSP00000495353.1:n.*966_*971del
ENST00000643233.1:c.*1811_*1816del (HADHA)	ENSP00000493880.1:n.*1811_*1816del
ENST00000644428.1:c.*544_*549del (HADHA)	ENSP00000495560.1:n.*544_*549del
ENST00000645274.1:c.1815_1820del (HADHA)	ENSP00000493996.1:p.Gln605_Gly607delinsHis
ENST00000646031.1:c.1279_1284del (HADHA)
ENST00000646483.1:c.1786_1791del (HADHA)	ENSP00000496185.1:n.1786_1791del
ENST00000380649.7:c.1920_1925del (HADHA)	ENSP00000370023.3:p.Gln640_Gly642delinsHis
ENST00000492433.1:c.378_383del (HADHA)	ENSP00000438039.1:p.Gln126_Gly128delinsHis
NM_000182.4:c.1920_1925del (HADHA)	NP_000173.2:p.Gln640_Gly642delinsHis
XM_011532567.1:c.1683+5070_1683+5075del (GAREM2)	XP_011530869.1:n.1683+5070_1683+5075del
XM_011532567.3:c.1683+5070_1683+5075del (GAREM2)	XP_011530869.1:n.1683+5070_1683+5075del
NM_000182.5:c.1920_1925del (HADHA) MANE Select	NP_000173.2:p.Gln640_Gly642delinsHis