Canonical Allele Identifier: CA2740092775

Gene: HADHA GAREM2

Linked Data

• ClinVar Variation Id: 2947613
• ClinVar RCV Id: RCV003804243

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201292del , CM000664.2:g.26201292del	GRCh38
NC_000002.11:g.26424161del , CM000664.1:g.26424161del	GRCh37
NC_000002.10:g.26277665del	NCBI36
NG_007121.1:g.48329del
NG_007121.2:g.48330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1249del (HADHA) MANE Select	ENSP00000370023.3:p.Leu417Ter
ENST00000492433.2:c.1249del (HADHA)	ENSP00000438039.2:p.Leu417Ter
ENST00000643057.1:c.*1140del (HADHA)	ENSP00000493761.1:n.*1140del
ENST00000643063.1:c.*295del (HADHA)	ENSP00000495353.1:n.*295del
ENST00000643233.1:c.*1140del (HADHA)	ENSP00000493880.1:n.*1140del
ENST00000644428.1:c.1249del (HADHA)	ENSP00000495560.1:p.Leu417Ter
ENST00000645274.1:c.1144del (HADHA)	ENSP00000493996.1:p.Leu382Ter
ENST00000646031.1:c.608del (HADHA)
ENST00000646483.1:c.1115del (HADHA)	ENSP00000496185.1:n.1115del
ENST00000380649.7:c.1249del (HADHA)	ENSP00000370023.3:p.Leu417Ter
NM_000182.4:c.1249del (HADHA)	NP_000173.2:p.Leu417Ter
XM_011532567.1:c.1684-941del (GAREM2)	XP_011530869.1:n.1684-941del
XM_011532567.3:c.1684-941del (GAREM2)	XP_011530869.1:n.1684-941del
NM_000182.5:c.1249del (HADHA) MANE Select	NP_000173.2:p.Leu417Ter