Canonical Allele Identifier: CA2585306763

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41410554-CGCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410562_41410565del , CM000681.2:g.41410562_41410565del	GRCh38
NC_000019.9:g.41916467_41916470del , CM000681.1:g.41916467_41916470del	GRCh37
NC_000019.8:g.46608307_46608310del	NCBI36
NG_013004.1:g.17774_17777del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.109-75_109-72del MANE Select	ENSP00000269980.2:n.109-75_109-72del
ENST00000269980.6:c.109-75_109-72del	ENSP00000269980.2:n.109-75_109-72del
ENST00000457836.6:c.58-90_58-87del	ENSP00000416000.2:n.58-90_58-87del
ENST00000538423.5:n.129-75_129-72del
ENST00000540732.3:c.211-75_211-72del	ENSP00000443246.1:n.211-75_211-72del
ENST00000542943.5:c.109-75_109-72del	ENSP00000440345.1:n.109-75_109-72del
ENST00000595085.5:c.109-75_109-72del	ENSP00000471150.2:n.109-75_109-72del
ENST00000604424.1:n.351-75_351-72del
NM_000709.3:c.109-75_109-72del	NP_000700.1:n.109-75_109-72del
NM_001164783.1:c.109-75_109-72del	NP_001158255.1:n.109-75_109-72del
NM_000709.4:c.109-75_109-72del MANE Select	NP_000700.1:n.109-75_109-72del
NM_001164783.2:c.109-75_109-72del	NP_001158255.1:n.109-75_109-72del