Canonical Allele Identifier: CA531391406

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1558314045
• gnomAD v2: 2-26415267-T-TA
• gnomAD v4: 2-26192398-T-TA
• MyVariant Identifiers: chr2:g.26415267_26415268insA (hg19) ; chr2:g.26192398_26192399insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192398_26192399insA , CM000664.2:g.26192398_26192399insA	GRCh38
NC_000002.11:g.26415267_26415268insA , CM000664.1:g.26415267_26415268insA	GRCh37
NC_000002.10:g.26268771_26268772insA	NCBI36
NG_007121.1:g.57222_57223insT
NG_007121.2:g.57223_57224insT

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1911_1912insT (HADHA) MANE Select	ENSP00000370023.3:p.Ile638TyrfsTer14
ENST00000492433.2:c.1911_1912insT (HADHA)	ENSP00000438039.2:p.Ile638TyrfsTer14
ENST00000643057.1:c.*1802_*1803insT (HADHA)	ENSP00000493761.1:n.*1802_*1803insT
ENST00000643063.1:c.*957_*958insT (HADHA)	ENSP00000495353.1:n.*957_*958insT
ENST00000643233.1:c.*1802_*1803insT (HADHA)	ENSP00000493880.1:n.*1802_*1803insT
ENST00000644428.1:c.*535_*536insT (HADHA)	ENSP00000495560.1:n.*535_*536insT
ENST00000645274.1:c.1806_1807insT (HADHA)	ENSP00000493996.1:p.Ile603TyrfsTer14
ENST00000646031.1:c.1270_1271insT (HADHA)
ENST00000646483.1:c.1777_1778insT (HADHA)	ENSP00000496185.1:n.1777_1778insT
ENST00000380649.7:c.1911_1912insT (HADHA)	ENSP00000370023.3:p.Ile638TyrfsTer14
ENST00000492433.1:c.369_370insT (HADHA)	ENSP00000438039.1:p.Ile124TyrfsTer14
NM_000182.4:c.1911_1912insT (HADHA)	NP_000173.2:p.Ile638TyrfsTer14
XM_011532567.1:c.1683+5083_1683+5084insA (GAREM2)	XP_011530869.1:n.1683+5083_1683+5084insA
XM_011532567.3:c.1683+5083_1683+5084insA (GAREM2)	XP_011530869.1:n.1683+5083_1683+5084insA
NM_000182.5:c.1911_1912insT (HADHA) MANE Select	NP_000173.2:p.Ile638TyrfsTer14