Canonical Allele Identifier: CA2814427892

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41424626_41424627insAACA , CM000681.2:g.41424626_41424627insAACA	GRCh38
NC_000019.9:g.41930531_41930532insAACA , CM000681.1:g.41930531_41930532insAACA	GRCh37
NC_000019.8:g.46622371_46622372insAACA	NCBI36
NG_013004.1:g.31838_31839insAACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.*18_*19insAACA MANE Select	ENSP00000269980.2:n.*18_*19insAACA
ENST00000269980.6:c.*18_*19insAACA	ENSP00000269980.2:n.*18_*19insAACA
ENST00000457836.6:c.*18_*19insAACA	ENSP00000416000.2:n.*18_*19insAACA
ENST00000540732.3:c.*18_*19insAACA	ENSP00000443246.1:n.*18_*19insAACA
ENST00000544905.1:c.186_187insAACA
ENST00000595085.5:c.922+1929_922+1930insAACA	ENSP00000471150.2:n.922+1929_922+1930insAACA
NM_000709.3:c.*18_*19insAACA	NP_000700.1:n.*18_*19insAACA
NM_001164783.1:c.*18_*19insAACA	NP_001158255.1:n.*18_*19insAACA
NM_000709.4:c.*18_*19insAACA MANE Select	NP_000700.1:n.*18_*19insAACA
NM_001164783.2:c.*18_*19insAACA	NP_001158255.1:n.*18_*19insAACA