Canonical Allele Identifier: CA16040871
Gene: HADHA HGNC NCBI
GAREM2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371597
dbSNP Id: rs1057517397

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.26192395_26192398del , CM000664.2:g.26192395_26192398del GRCh38
NC_000002.11:g.26415264_26415267del , CM000664.1:g.26415264_26415267del GRCh37
NC_000002.10:g.26268768_26268771del NCBI36
NG_007121.1:g.57226_57229del
NG_007121.2:g.57227_57230del

Transcript Alleles

HGVS Amino-acid change
ENST00000380649.8:c.1915_1918del (HADHA) MANE Select ENSP00000370023.3:p.Tyr639ArgfsTer4
ENST00000492433.2:c.1915_1918del (HADHA) ENSP00000438039.2:p.Tyr639ArgfsTer4
ENST00000643057.1:c.*1806_*1809del (HADHA) ENSP00000493761.1:n.*1806_*1809del
ENST00000643063.1:c.*961_*964del (HADHA) ENSP00000495353.1:n.*961_*964del
ENST00000643233.1:c.*1806_*1809del (HADHA) ENSP00000493880.1:n.*1806_*1809del
ENST00000644428.1:c.*539_*542del (HADHA) ENSP00000495560.1:n.*539_*542del
ENST00000645274.1:c.1810_1813del (HADHA) ENSP00000493996.1:p.Tyr604ArgfsTer4
ENST00000646031.1:c.1274_1277del (HADHA)
ENST00000646483.1:c.1781_1784del (HADHA) ENSP00000496185.1:n.1781_1784del
ENST00000380649.7:c.1915_1918del (HADHA) ENSP00000370023.3:p.Tyr639ArgfsTer4
ENST00000492433.1:c.373_376del (HADHA) ENSP00000438039.1:p.Tyr125ArgfsTer4
NM_000182.4:c.1915_1918del (HADHA) NP_000173.2:p.Tyr639ArgfsTer4
XM_011532567.1:c.1683+5080_1683+5083del (GAREM2) XP_011530869.1:n.1683+5080_1683+5083del
XM_011532567.3:c.1683+5080_1683+5083del (GAREM2) XP_011530869.1:n.1683+5080_1683+5083del
NM_000182.5:c.1915_1918del (HADHA) MANE Select NP_000173.2:p.Tyr639ArgfsTer4