Canonical Allele Identifier: CA9460998

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 550872
• ClinVar RCV Id: RCV000665748
• dbSNP Id: rs751877248
• ExAC: 19:41916540 AGCACCCCCCCAG / A
• gnomAD v2: 19-41916540-AGCACCCCCCCAG-A
• gnomAD v3: 19-41410635-AGCACCCCCCCAG-A
• gnomAD v4: 19-41410635-AGCACCCCCCCAG-A
• MyVariant Identifiers: chr19:g.41916541_41916552del (hg19) ; chr19:g.41410639_41410650del (hg38) ; chr19:g.41410636_41410647del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41410639_41410650del , CM000681.2:g.41410639_41410650del	GRCh38
NC_000019.9:g.41916544_41916555del , CM000681.1:g.41916544_41916555del	GRCh37
NC_000019.8:g.46608384_46608395del	NCBI36
NG_013004.1:g.17851_17862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.111_122del
ENST00000269980.6:c.111_122del
ENST00000457836.6:c.58-13_58-2del	ENSP00000416000.2:n.58-13_58-2del
ENST00000538423.5:n.131_142del
ENST00000540732.3:c.213_224del
ENST00000542943.5:c.111_122del
ENST00000595085.5:c.111_122del
ENST00000604424.1:n.353_364del
NM_000709.3:c.111_122del
NM_001164783.1:c.111_122del
NM_000709.4:c.111_122del
NM_001164783.2:c.111_122del