Canonical Allele Identifier: CA2336453862

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039244896
• gnomAD v4: 19-41410845-G-GC

Genomic Alleles

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

Transcript Alleles

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