Canonical Allele Identifier: CA1239700729

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669486736

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191228_26191231del , CM000664.2:g.26191228_26191231del	GRCh38
NC_000002.11:g.26414097_26414100del , CM000664.1:g.26414097_26414100del	GRCh37
NC_000002.10:g.26267601_26267604del	NCBI36
NG_007121.1:g.58395_58398del
NG_007121.2:g.58396_58399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*24_*27del (HADHA) MANE Select	ENSP00000370023.3:n.*24_*27del
ENST00000492433.2:c.*24_*27del (HADHA)	ENSP00000438039.2:n.*24_*27del
ENST00000643057.1:c.*2294_*2297del (HADHA)	ENSP00000493761.1:n.*2294_*2297del
ENST00000643063.1:c.*1362_*1365del (HADHA)	ENSP00000495353.1:n.*1362_*1365del
ENST00000643233.1:c.*2207_*2210del (HADHA)	ENSP00000493880.1:n.*2207_*2210del
ENST00000644428.1:c.*940_*943del (HADHA)	ENSP00000495560.1:n.*940_*943del
ENST00000645274.1:c.*24_*27del (HADHA)	ENSP00000493996.1:n.*24_*27del
ENST00000646031.1:c.1675_1678del (HADHA)
ENST00000380649.7:c.*24_*27del (HADHA)	ENSP00000370023.3:n.*24_*27del
NM_000182.4:c.*24_*27del (HADHA)	NP_000173.2:n.*24_*27del
XM_011532567.1:c.1683+3913_1683+3916del (GAREM2)	XP_011530869.1:n.1683+3913_1683+3916del
XM_011532567.3:c.1683+3913_1683+3916del (GAREM2)	XP_011530869.1:n.1683+3913_1683+3916del
NM_000182.5:c.*24_*27del (HADHA) MANE Select	NP_000173.2:n.*24_*27del