Canonical Allele Identifier: CA1028590934

Gene: HADHA GAREM2

Linked Data

• gnomAD v3: 2-26201714-A-AGACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAAC
• gnomAD v4: 2-26201714-A-AGACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26201715_26201716insACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAACG , CM000664.2:g.26201715_26201716insACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAACG	GRCh38
NC_000002.11:g.26424584_26424585insACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAACG , CM000664.1:g.26424584_26424585insACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAACG	GRCh37
NC_000002.10:g.26278088_26278089insACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAACG	NCBI36
NG_007121.1:g.47906_47907insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC
NG_007121.2:g.47907_47908insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA) MANE Select	ENSP00000370023.3:n.1221-395_1221-394insGTTGGTTTATATTTGCTTATC...
ENST00000492433.2:c.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000438039.2:n.1221-395_1221-394insGTTGGTTTATATTTGCTTATC...
ENST00000643057.1:c.*1112-395_*1112-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000493761.1:n.*1112-395_*1112-394insGTTGGTTTATATTTGCTTA...
ENST00000643063.1:c.*267-395_*267-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000495353.1:n.*267-395_*267-394insGTTGGTTTATATTTGCTTATC...
ENST00000643233.1:c.*1112-395_*1112-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000493880.1:n.*1112-395_*1112-394insGTTGGTTTATATTTGCTTA...
ENST00000644428.1:c.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000495560.1:n.1221-395_1221-394insGTTGGTTTATATTTGCTTATC...
ENST00000645274.1:c.1116-395_1116-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000493996.1:n.1116-395_1116-394insGTTGGTTTATATTTGCTTATC...
ENST00000646031.1:c.580-395_580-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)
ENST00000646483.1:c.1087-395_1087-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000496185.1:n.1087-395_1087-394insGTTGGTTTATATTTGCTTATC...
ENST00000380649.7:c.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	ENSP00000370023.3:n.1221-395_1221-394insGTTGGTTTATATTTGCTTATC...
NM_000182.4:c.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA)	NP_000173.2:n.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAAT...
XM_011532567.1:c.1684-518_1684-517insACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAACG (GAREM2)	XP_011530869.1:n.1684-518_1684-517insACCACATGGTTTATATTTGCTTTA...
XM_011532567.3:c.1684-518_1684-517insACCACATGGTTTATATTTGCTTTATATATTTGCGATAAGCAAATATAAACCAACG (GAREM2)	XP_011530869.1:n.1684-518_1684-517insACCACATGGTTTATATTTGCTTTA...
NM_000182.5:c.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAATATATAAAGCAAATATAAACCATGTGGTC (HADHA) MANE Select	NP_000173.2:n.1221-395_1221-394insGTTGGTTTATATTTGCTTATCGCAAAT...