Canonical Allele Identifier: CA1028590805

Gene: HADHA GAREM2

Linked Data

• dbSNP Id: rs1669830542
• gnomAD v3: 2-26201381-CCAT-C
• gnomAD v4: 2-26201381-CCAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201382_26201384del , CM000664.2:g.26201382_26201384del	GRCh38
NC_000002.11:g.26424251_26424253del , CM000664.1:g.26424251_26424253del	GRCh37
NC_000002.10:g.26277755_26277757del	NCBI36
NG_007121.1:g.48237_48239del
NG_007121.2:g.48238_48240del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-64_1221-62del (HADHA) MANE Select	ENSP00000370023.3:n.1221-64_1221-62del
ENST00000492433.2:c.1221-64_1221-62del (HADHA)	ENSP00000438039.2:n.1221-64_1221-62del
ENST00000643057.1:c.*1112-64_*1112-62del (HADHA)	ENSP00000493761.1:n.*1112-64_*1112-62del
ENST00000643063.1:c.*267-64_*267-62del (HADHA)	ENSP00000495353.1:n.*267-64_*267-62del
ENST00000643233.1:c.*1112-64_*1112-62del (HADHA)	ENSP00000493880.1:n.*1112-64_*1112-62del
ENST00000644428.1:c.1221-64_1221-62del (HADHA)	ENSP00000495560.1:n.1221-64_1221-62del
ENST00000645274.1:c.1116-64_1116-62del (HADHA)	ENSP00000493996.1:n.1116-64_1116-62del
ENST00000646031.1:c.580-64_580-62del (HADHA)
ENST00000646483.1:c.1087-64_1087-62del (HADHA)	ENSP00000496185.1:n.1087-64_1087-62del
ENST00000380649.7:c.1221-64_1221-62del (HADHA)	ENSP00000370023.3:n.1221-64_1221-62del
NM_000182.4:c.1221-64_1221-62del (HADHA)	NP_000173.2:n.1221-64_1221-62del
XM_011532567.1:c.1684-851_1684-849del (GAREM2)	XP_011530869.1:n.1684-851_1684-849del
XM_011532567.3:c.1684-851_1684-849del (GAREM2)	XP_011530869.1:n.1684-851_1684-849del
NM_000182.5:c.1221-64_1221-62del (HADHA) MANE Select	NP_000173.2:n.1221-64_1221-62del