Canonical Allele Identifier: CA1028587122

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669578014
• gnomAD v3: 2-26193678-ACATCCACACCAACTTCAT-A
• gnomAD v4: 2-26193678-ACATCCACACCAACTTCAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26193680_26193697del , CM000664.2:g.26193680_26193697del	GRCh38
NC_000002.11:g.26416549_26416566del , CM000664.1:g.26416549_26416566del	GRCh37
NC_000002.10:g.26270053_26270070del	NCBI36
NG_007121.1:g.55925_55942del
NG_007121.2:g.55926_55943del

Transcript Alleles

HGVS	Amino-acid change
ENST00000380649.8:c.1766_1783del (HADHA) MANE Select	ENSP00000370023.3:p.Asp589_Asp594del
ENST00000492433.2:c.1766_1783del (HADHA)	ENSP00000438039.2:p.Asp589_Asp594del
ENST00000643057.1:c.*1657_*1674del (HADHA)	ENSP00000493761.1:n.*1657_*1674del
ENST00000643063.1:c.*812_*829del (HADHA)	ENSP00000495353.1:n.*812_*829del
ENST00000643233.1:c.*1657_*1674del (HADHA)	ENSP00000493880.1:n.*1657_*1674del
ENST00000644428.1:c.*390_*407del (HADHA)	ENSP00000495560.1:n.*390_*407del
ENST00000645274.1:c.1661_1678del (HADHA)	ENSP00000493996.1:p.Asp554_Asp559del
ENST00000646031.1:c.1125_1142del (HADHA)
ENST00000646483.1:c.1632_1649del (HADHA)	ENSP00000496185.1:n.1632_1649del
ENST00000380649.7:c.1766_1783del (HADHA)	ENSP00000370023.3:p.Asp589_Asp594del
ENST00000492433.1:c.224_241del (HADHA)	ENSP00000438039.1:p.Asp75_Asp80del
NM_000182.4:c.1766_1783del (HADHA)	NP_000173.2:p.Asp589_Asp594del
XM_011532567.1:c.1683+6365_1683+6382del (GAREM2)	XP_011530869.1:n.1683+6365_1683+6382del
XM_011532567.3:c.1683+6365_1683+6382del (GAREM2)	XP_011530869.1:n.1683+6365_1683+6382del
NM_000182.5:c.1766_1783del (HADHA) MANE Select	NP_000173.2:p.Asp589_Asp594del