Canonical Allele Identifier: CA1559425

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 1593872
• ClinVar RCV Id: RCV002105273
• dbSNP Id: rs772436809
• ExAC: 2:26415310 AAGGGAGTGTTACTATTTGTTCTCAGGG / A
• gnomAD v2: 2-26415310-AAGGGAGTGTTACTATTTGTTCTCAGGG-A
• gnomAD v3: 2-26192441-AAGGGAGTGTTACTATTTGTTCTCAGGG-A
• gnomAD v4: 2-26192441-AAGGGAGTGTTACTATTTGTTCTCAGGG-A
• MyVariant Identifiers: chr2:g.26415311_26415337del (hg19) ; chr2:g.26192442_26192468del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192467_26192493del , CM000664.2:g.26192467_26192493del	GRCh38
NC_000002.11:g.26415336_26415362del , CM000664.1:g.26415336_26415362del	GRCh37
NC_000002.10:g.26268840_26268866del	NCBI36
NG_007121.1:g.57153_57179del
NG_007121.2:g.57154_57180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1886-44_1886-18del (HADHA) MANE Select	ENSP00000370023.3:n.1886-44_1886-18del
ENST00000492433.2:c.1886-44_1886-18del (HADHA)	ENSP00000438039.2:n.1886-44_1886-18del
ENST00000643057.1:c.*1777-44_*1777-18del (HADHA)	ENSP00000493761.1:n.*1777-44_*1777-18del
ENST00000643063.1:c.*932-44_*932-18del (HADHA)	ENSP00000495353.1:n.*932-44_*932-18del
ENST00000643233.1:c.*1777-44_*1777-18del (HADHA)	ENSP00000493880.1:n.*1777-44_*1777-18del
ENST00000644428.1:c.*510-44_*510-18del (HADHA)	ENSP00000495560.1:n.*510-44_*510-18del
ENST00000645274.1:c.1781-44_1781-18del (HADHA)	ENSP00000493996.1:n.1781-44_1781-18del
ENST00000646031.1:c.1245-44_1245-18del (HADHA)
ENST00000646483.1:c.1752-44_1752-18del (HADHA)	ENSP00000496185.1:n.1752-44_1752-18del
ENST00000380649.7:c.1886-44_1886-18del (HADHA)	ENSP00000370023.3:n.1886-44_1886-18del
ENST00000492433.1:c.344-44_344-18del (HADHA)	ENSP00000438039.1:n.344-44_344-18del
NM_000182.4:c.1886-44_1886-18del (HADHA)	NP_000173.2:n.1886-44_1886-18del
XM_011532567.1:c.1683+5152_1683+5178del (GAREM2)	XP_011530869.1:n.1683+5152_1683+5178del
XM_011532567.3:c.1683+5152_1683+5178del (GAREM2)	XP_011530869.1:n.1683+5152_1683+5178del
NM_000182.5:c.1886-44_1886-18del (HADHA) MANE Select	NP_000173.2:n.1886-44_1886-18del