Canonical Allele Identifier: CA2658205249

Gene: HADHA

Linked Data

• gnomAD v4: 2-26204170-A-AAAGATTGTCCAAGGAATGGGTTTTGTTAGCTCTATGGGCAATAAGAGAAGATAATGTTTGTTTGTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26204170_26204171insAAGATTGTCCAAGGAATGGGTTTTGTTAGCTCTATGGGCAATAAGAGAAGATAATGTTTGTTTGTTT , CM000664.2:g.26204170_26204171insAAGATTGTCCAAGGAATGGGTTTTGTTAGCTCTATGGGCAATAAGAGAAGATAATGTTTGTTTGTTT	GRCh38
NC_000002.11:g.26427039_26427040insAAGATTGTCCAAGGAATGGGTTTTGTTAGCTCTATGGGCAATAAGAGAAGATAATGTTTGTTTGTTT , CM000664.1:g.26427039_26427040insAAGATTGTCCAAGGAATGGGTTTTGTTAGCTCTATGGGCAATAAGAGAAGATAATGTTTGTTTGTTT	GRCh37
NC_000002.10:g.26280543_26280544insAAGATTGTCCAAGGAATGGGTTTTGTTAGCTCTATGGGCAATAAGAGAAGATAATGTTTGTTTGTTT	NCBI36
NG_007121.1:g.45450_45451insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT
NG_007121.2:g.45451_45452insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380649.8:c.1111_1112insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT MANE Select	ENSP00000370023.3:p.Leu371GlnfsTer35
ENST00000492433.2:c.1111_1112insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000438039.2:p.Leu371GlnfsTer35
ENST00000643057.1:c.*1002_*1003insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000493761.1:n.*1002_*1003insAAACAAACAAACATTATCTTCTCTTAT...
ENST00000643063.1:c.*157_*158insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000495353.1:n.*157_*158insAAACAAACAAACATTATCTTCTCTTATTG...
ENST00000643233.1:c.*1002_*1003insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000493880.1:n.*1002_*1003insAAACAAACAAACATTATCTTCTCTTAT...
ENST00000644428.1:c.1111_1112insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000495560.1:p.Leu371GlnfsTer35
ENST00000645274.1:c.1006_1007insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000493996.1:p.Leu336GlnfsTer35
ENST00000646031.1:c.470_471insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT
ENST00000646483.1:c.977_978insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000496185.1:n.977_978insAAACAAACAAACATTATCTTCTCTTATTGCC...
ENST00000380649.7:c.1111_1112insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	ENSP00000370023.3:p.Leu371GlnfsTer35
NM_000182.4:c.1111_1112insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT	NP_000173.2:p.Leu371GlnfsTer35
NM_000182.5:c.1111_1112insAAACAAACAAACATTATCTTCTCTTATTGCCCATAGAGCTAACAAAACCCATTCCTTGGACAATCTT MANE Select	NP_000173.2:p.Leu371GlnfsTer35