Canonical Allele Identifier: CA2695228770

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424476_41424481dup , CM000681.2:g.41424476_41424481dup	GRCh38
NC_000019.9:g.41930381_41930386dup , CM000681.1:g.41930381_41930386dup	GRCh37
NC_000019.8:g.46622221_46622226dup	NCBI36
NG_013004.1:g.31688_31693dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1206_1211dup MANE Select	ENSP00000269980.2:p.Pro403_Asn404insLysPro
ENST00000269980.6:c.1206_1211dup	ENSP00000269980.2:p.Pro403_Asn404insLysPro
ENST00000457836.6:c.1215_1220dup	ENSP00000416000.2:p.Pro406_Asn407insLysPro
ENST00000540732.3:c.1308_1313dup	ENSP00000443246.1:p.Pro437_Asn438insLysPro
ENST00000544905.1:c.62-26_62-21dup
ENST00000595085.5:c.922+1779_922+1784dup	ENSP00000471150.2:n.922+1779_922+1784dup
NM_000709.3:c.1206_1211dup	NP_000700.1:p.Pro403_Asn404insLysPro
NM_001164783.1:c.1203_1208dup	NP_001158255.1:p.Pro402_Asn403insLysPro
NM_000709.4:c.1206_1211dup MANE Select	NP_000700.1:p.Pro403_Asn404insLysPro
NM_001164783.2:c.1203_1208dup	NP_001158255.1:p.Pro402_Asn403insLysPro