Canonical Allele Identifier: CA2585306813

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41410845-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410851del , CM000681.2:g.41410851del	GRCh38
NC_000019.9:g.41916756del , CM000681.1:g.41916756del	GRCh37
NC_000019.8:g.46608596del	NCBI36
NG_013004.1:g.18063del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.288+35del MANE Select	ENSP00000269980.2:n.288+35del
ENST00000269980.6:c.288+35del	ENSP00000269980.2:n.288+35del
ENST00000457836.6:c.222+35del	ENSP00000416000.2:n.222+35del
ENST00000538423.5:n.343del
ENST00000540732.3:c.390+35del	ENSP00000443246.1:n.390+35del
ENST00000541315.1:c.95+35del
ENST00000542943.5:c.288+35del	ENSP00000440345.1:n.288+35del
ENST00000595085.5:c.288+35del	ENSP00000471150.2:n.288+35del
ENST00000604424.1:n.565del
NM_000709.3:c.288+35del	NP_000700.1:n.288+35del
NM_001164783.1:c.288+35del	NP_001158255.1:n.288+35del
NM_000709.4:c.288+35del MANE Select	NP_000700.1:n.288+35del
NM_001164783.2:c.288+35del	NP_001158255.1:n.288+35del