Canonical Allele Identifier: CA1239700698

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669484583
• gnomAD v4: 2-26191166-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191169del , CM000664.2:g.26191169del	GRCh38
NC_000002.11:g.26414038del , CM000664.1:g.26414038del	GRCh37
NC_000002.10:g.26267542del	NCBI36
NG_007121.1:g.58454del
NG_007121.2:g.58455del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.*83del (HADHA) MANE Select	ENSP00000370023.3:n.*83del
ENST00000492433.2:c.*83del (HADHA)	ENSP00000438039.2:n.*83del
ENST00000643057.1:c.*2353del (HADHA)	ENSP00000493761.1:n.*2353del
ENST00000643063.1:c.*1421del (HADHA)	ENSP00000495353.1:n.*1421del
ENST00000643233.1:c.*2266del (HADHA)	ENSP00000493880.1:n.*2266del
ENST00000644428.1:c.*999del (HADHA)	ENSP00000495560.1:n.*999del
ENST00000645274.1:c.*83del (HADHA)	ENSP00000493996.1:n.*83del
ENST00000646031.1:c.1734del (HADHA)
ENST00000380649.7:c.*83del (HADHA)	ENSP00000370023.3:n.*83del
NM_000182.4:c.*83del (HADHA)	NP_000173.2:n.*83del
XM_011532567.1:c.1683+3854del (GAREM2)	XP_011530869.1:n.1683+3854del
XM_011532567.3:c.1683+3854del (GAREM2)	XP_011530869.1:n.1683+3854del
NM_000182.5:c.*83del (HADHA) MANE Select	NP_000173.2:n.*83del