Canonical Allele Identifier: CA2336460047

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039406091

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424500dup , CM000681.2:g.41424500dup	GRCh38
NC_000019.9:g.41930405dup , CM000681.1:g.41930405dup	GRCh37
NC_000019.8:g.46622245dup	NCBI36
NG_013004.1:g.31712dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1230dup MANE Select	ENSP00000269980.2:p.Asp411ArgfsTer?
ENST00000269980.6:c.1230dup	ENSP00000269980.2:p.Asp411ArgfsTer?
ENST00000457836.6:c.1239dup	ENSP00000416000.2:p.Asp414ArgfsTer?
ENST00000540732.3:c.1332dup	ENSP00000443246.1:p.Asp445ArgfsTer?
ENST00000544905.1:c.62-2dup
ENST00000595085.5:c.922+1803dup	ENSP00000471150.2:n.922+1803dup
NM_000709.3:c.1230dup	NP_000700.1:p.Asp411ArgfsTer?
NM_001164783.1:c.1227dup	NP_001158255.1:p.Asp410ArgfsTer?
NM_000709.4:c.1230dup MANE Select	NP_000700.1:p.Asp411ArgfsTer?
NM_001164783.2:c.1227dup	NP_001158255.1:p.Asp410ArgfsTer?