Canonical Allele Identifier: CA2522528308

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422945_41422946insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG , CM000681.2:g.41422945_41422946insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	GRCh38
NC_000019.9:g.41928850_41928851insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG , CM000681.1:g.41928850_41928851insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	GRCh37
NC_000019.8:g.46620690_46620691insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	NCBI36
NG_013004.1:g.30157_30158insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG MANE Select	ENSP00000269980.2:n.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGG...
ENST00000269980.6:c.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	ENSP00000269980.2:n.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGG...
ENST00000457836.6:c.952_953insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	ENSP00000416000.2:p.Pro317_Asp318insAlaMetLeuGlyIleLeuGlyGlyG...
ENST00000540732.3:c.1098-53_1098-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	ENSP00000443246.1:n.1098-53_1098-52insCCATGCTCGGCATCCTCGGCGGC...
ENST00000542943.5:c.909-53_909-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	ENSP00000440345.1:n.909-53_909-52insCCATGCTCGGCATCCTCGGCGGCGG...
ENST00000595085.5:c.922+248_922+249insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	ENSP00000471150.2:n.922+248_922+249insCCATGCTCGGCATCCTCGGCGGC...
NM_000709.3:c.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	NP_000700.1:n.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGGACAATT...
NM_001164783.1:c.993-53_993-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	NP_001158255.1:n.993-53_993-52insCCATGCTCGGCATCCTCGGCGGCGGACA...
NM_000709.4:c.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG MANE Select	NP_000700.1:n.996-53_996-52insCCATGCTCGGCATCCTCGGCGGCGGACAATT...
NM_001164783.2:c.993-53_993-52insCCATGCTCGGCATCCTCGGCGGCGGACAATTAGGCAGAATGTTTACTGTTGCTGCCAAAACCATGGGCTACAAAGTAACCGTACTCGATCCCG	NP_001158255.1:n.993-53_993-52insCCATGCTCGGCATCCTCGGCGGCGGACA...