Canonical Allele Identifier: CA2576696605

Gene: HADHA GAREM2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192501_26192511del , CM000664.2:g.26192501_26192511del	GRCh38
NC_000002.11:g.26415370_26415380del , CM000664.1:g.26415370_26415380del	GRCh37
NC_000002.10:g.26268874_26268884del	NCBI36
NG_007121.1:g.57111_57121del
NG_007121.2:g.57112_57122del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1886-86_1886-76del (HADHA) MANE Select	ENSP00000370023.3:n.1886-86_1886-76del
ENST00000492433.2:c.1886-86_1886-76del (HADHA)	ENSP00000438039.2:n.1886-86_1886-76del
ENST00000643057.1:c.*1777-86_*1777-76del (HADHA)	ENSP00000493761.1:n.*1777-86_*1777-76del
ENST00000643063.1:c.*932-86_*932-76del (HADHA)	ENSP00000495353.1:n.*932-86_*932-76del
ENST00000643233.1:c.*1777-86_*1777-76del (HADHA)	ENSP00000493880.1:n.*1777-86_*1777-76del
ENST00000644428.1:c.*510-86_*510-76del (HADHA)	ENSP00000495560.1:n.*510-86_*510-76del
ENST00000645274.1:c.1781-86_1781-76del (HADHA)	ENSP00000493996.1:n.1781-86_1781-76del
ENST00000646031.1:c.1245-86_1245-76del (HADHA)
ENST00000646483.1:c.1752-86_1752-76del (HADHA)	ENSP00000496185.1:n.1752-86_1752-76del
ENST00000380649.7:c.1886-86_1886-76del (HADHA)	ENSP00000370023.3:n.1886-86_1886-76del
ENST00000492433.1:c.344-86_344-76del (HADHA)	ENSP00000438039.1:n.344-86_344-76del
NM_000182.4:c.1886-86_1886-76del (HADHA)	NP_000173.2:n.1886-86_1886-76del
XM_011532567.1:c.1683+5186_1683+5196del (GAREM2)	XP_011530869.1:n.1683+5186_1683+5196del
XM_011532567.3:c.1683+5186_1683+5196del (GAREM2)	XP_011530869.1:n.1683+5186_1683+5196del
NM_000182.5:c.1886-86_1886-76del (HADHA) MANE Select	NP_000173.2:n.1886-86_1886-76del