Canonical Allele Identifier: CA2658210502

Gene: HADHA GAREM2

Linked Data

• gnomAD v4: 2-26192219-TAAAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26192231_26192234del , CM000664.2:g.26192231_26192234del	GRCh38
NC_000002.11:g.26415100_26415103del , CM000664.1:g.26415100_26415103del	GRCh37
NC_000002.10:g.26268604_26268607del	NCBI36
NG_007121.1:g.57398_57401del
NG_007121.2:g.57399_57402del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.2000+87_2000+90del (HADHA) MANE Select	ENSP00000370023.3:n.2000+87_2000+90del
ENST00000492433.2:c.2000+87_2000+90del (HADHA)	ENSP00000438039.2:n.2000+87_2000+90del
ENST00000643057.1:c.*1891+87_*1891+90del (HADHA)	ENSP00000493761.1:n.*1891+87_*1891+90del
ENST00000643063.1:c.*1046+87_*1046+90del (HADHA)	ENSP00000495353.1:n.*1046+87_*1046+90del
ENST00000643233.1:c.*1891+87_*1891+90del (HADHA)	ENSP00000493880.1:n.*1891+87_*1891+90del
ENST00000644428.1:c.*624+87_*624+90del (HADHA)	ENSP00000495560.1:n.*624+87_*624+90del
ENST00000645274.1:c.1895+87_1895+90del (HADHA)	ENSP00000493996.1:n.1895+87_1895+90del
ENST00000646031.1:c.1359+87_1359+90del (HADHA)
ENST00000646483.1:c.1866+87_1866+90del (HADHA)	ENSP00000496185.1:n.1866+87_1866+90del
ENST00000380649.7:c.2000+87_2000+90del (HADHA)	ENSP00000370023.3:n.2000+87_2000+90del
ENST00000492433.1:c.458+87_458+90del (HADHA)	ENSP00000438039.1:n.458+87_458+90del
NM_000182.4:c.2000+87_2000+90del (HADHA)	NP_000173.2:n.2000+87_2000+90del
XM_011532567.1:c.1683+4916_1683+4919del (GAREM2)	XP_011530869.1:n.1683+4916_1683+4919del
XM_011532567.3:c.1683+4916_1683+4919del (GAREM2)	XP_011530869.1:n.1683+4916_1683+4919del
NM_000182.5:c.2000+87_2000+90del (HADHA) MANE Select	NP_000173.2:n.2000+87_2000+90del