Canonical Allele Identifier: CA2576793863

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422985_41422991del , CM000681.2:g.41422985_41422991del	GRCh38
NC_000019.9:g.41928890_41928896del , CM000681.1:g.41928890_41928896del	GRCh37
NC_000019.8:g.46620730_46620736del	NCBI36
NG_013004.1:g.30197_30203del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-13_996-7del MANE Select	ENSP00000269980.2:n.996-13_996-7del
ENST00000269980.6:c.996-13_996-7del	ENSP00000269980.2:n.996-13_996-7del
ENST00000457836.6:c.992_998del	ENSP00000416000.2:p.Leu331CysfsTer?
ENST00000540732.3:c.1098-13_1098-7del	ENSP00000443246.1:n.1098-13_1098-7del
ENST00000542943.5:c.909-13_909-7del	ENSP00000440345.1:n.909-13_909-7del
ENST00000595085.5:c.922+288_922+294del	ENSP00000471150.2:n.922+288_922+294del
NM_000709.3:c.996-13_996-7del	NP_000700.1:n.996-13_996-7del
NM_001164783.1:c.993-13_993-7del	NP_001158255.1:n.993-13_993-7del
NM_000709.4:c.996-13_996-7del MANE Select	NP_000700.1:n.996-13_996-7del
NM_001164783.2:c.993-13_993-7del	NP_001158255.1:n.993-13_993-7del