Canonical Allele Identifier: CA2658214960

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26191270-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26191271del , CM000664.2:g.26191271del	GRCh38
NC_000002.11:g.26414140del , CM000664.1:g.26414140del	GRCh37
NC_000002.10:g.26267644del	NCBI36
NG_007121.1:g.58350del
NG_007121.2:g.58351del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2271del (HADHA) MANE Select	ENSP00000370023.3:p.Asn758ThrfsTer18
ENST00000492433.2:c.2358del (HADHA)	ENSP00000438039.2:p.Asn787ThrfsTer18
ENST00000643057.1:c.*2249del (HADHA)	ENSP00000493761.1:n.*2249del
ENST00000643063.1:c.*1317del (HADHA)	ENSP00000495353.1:n.*1317del
ENST00000643233.1:c.*2162del (HADHA)	ENSP00000493880.1:n.*2162del
ENST00000644428.1:c.*895del (HADHA)	ENSP00000495560.1:n.*895del
ENST00000645274.1:c.2166del (HADHA)	ENSP00000493996.1:p.Asn723ThrfsTer18
ENST00000646031.1:c.1630del (HADHA)
ENST00000646483.1:c.2137del (HADHA)	ENSP00000496185.1:n.2137del
ENST00000380649.7:c.2271del (HADHA)	ENSP00000370023.3:p.Asn758ThrfsTer18
NM_000182.4:c.2271del (HADHA)	NP_000173.2:p.Asn758ThrfsTer18
XM_011532567.1:c.1683+3956del (GAREM2)	XP_011530869.1:n.1683+3956del
XM_011532567.3:c.1683+3956del (GAREM2)	XP_011530869.1:n.1683+3956del
NM_000182.5:c.2271del (HADHA) MANE Select	NP_000173.2:p.Asn758ThrfsTer18