Canonical Allele Identifier: CA2336453704

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039239786
• gnomAD v4: 19-41410549-CAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410550_41410551del , CM000681.2:g.41410550_41410551del	GRCh38
NC_000019.9:g.41916455_41916456del , CM000681.1:g.41916455_41916456del	GRCh37
NC_000019.8:g.46608295_46608296del	NCBI36
NG_013004.1:g.17762_17763del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.109-87_109-86del MANE Select	ENSP00000269980.2:n.109-87_109-86del
ENST00000269980.6:c.109-87_109-86del	ENSP00000269980.2:n.109-87_109-86del
ENST00000457836.6:c.58-102_58-101del	ENSP00000416000.2:n.58-102_58-101del
ENST00000538423.5:n.129-87_129-86del
ENST00000540732.3:c.211-87_211-86del	ENSP00000443246.1:n.211-87_211-86del
ENST00000542943.5:c.109-87_109-86del	ENSP00000440345.1:n.109-87_109-86del
ENST00000595085.5:c.109-87_109-86del	ENSP00000471150.2:n.109-87_109-86del
ENST00000604424.1:n.351-87_351-86del
NM_000709.3:c.109-87_109-86del	NP_000700.1:n.109-87_109-86del
NM_001164783.1:c.109-87_109-86del	NP_001158255.1:n.109-87_109-86del
NM_000709.4:c.109-87_109-86del MANE Select	NP_000700.1:n.109-87_109-86del
NM_001164783.2:c.109-87_109-86del	NP_001158255.1:n.109-87_109-86del