Canonical Allele Identifier: CA2586968752

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26201311-GTCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201315_26201318del , CM000664.2:g.26201315_26201318del	GRCh38
NC_000002.11:g.26424184_26424187del , CM000664.1:g.26424184_26424187del	GRCh37
NC_000002.10:g.26277688_26277691del	NCBI36
NG_007121.1:g.48306_48309del
NG_007121.2:g.48307_48310del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1226_1229del (HADHA) MANE Select	ENSP00000370023.3:p.Asn409ThrfsTer3
ENST00000492433.2:c.1226_1229del (HADHA)	ENSP00000438039.2:p.Asn409ThrfsTer3
ENST00000643057.1:c.*1117_*1120del (HADHA)	ENSP00000493761.1:n.*1117_*1120del
ENST00000643063.1:c.*272_*275del (HADHA)	ENSP00000495353.1:n.*272_*275del
ENST00000643233.1:c.*1117_*1120del (HADHA)	ENSP00000493880.1:n.*1117_*1120del
ENST00000644428.1:c.1226_1229del (HADHA)	ENSP00000495560.1:p.Asn409ThrfsTer3
ENST00000645274.1:c.1121_1124del (HADHA)	ENSP00000493996.1:p.Asn374ThrfsTer3
ENST00000646031.1:c.585_588del (HADHA)
ENST00000646483.1:c.1092_1095del (HADHA)	ENSP00000496185.1:n.1092_1095del
ENST00000380649.7:c.1226_1229del (HADHA)	ENSP00000370023.3:p.Asn409ThrfsTer3
NM_000182.4:c.1226_1229del (HADHA)	NP_000173.2:p.Asn409ThrfsTer3
XM_011532567.1:c.1684-918_1684-915del (GAREM2)	XP_011530869.1:n.1684-918_1684-915del
XM_011532567.3:c.1684-918_1684-915del (GAREM2)	XP_011530869.1:n.1684-918_1684-915del
NM_000182.5:c.1226_1229del (HADHA) MANE Select	NP_000173.2:p.Asn409ThrfsTer3