Canonical Allele Identifier: CA913016472
Gene: BCKDHA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41410635_41410647del , CM000681.2:g.41410635_41410647del GRCh38
NC_000019.9:g.41916540_41916552del , CM000681.1:g.41916540_41916552del GRCh37
NC_000019.8:g.46608380_46608392del NCBI36
NG_013004.1:g.17847_17859del

Transcript Alleles

HGVS Amino-acid Change
ENST00000269980.7:c.109-2_119del
ENST00000269980.6:c.109-2_119del
ENST00000457836.6:c.58-17_58-5del ENSP00000416000.2:n.58-17_58-5del
ENST00000538423.5:n.129-2_139del
ENST00000540732.3:c.211-2_221del
ENST00000542943.5:c.109-2_119del
ENST00000595085.5:c.109-2_119del
ENST00000604424.1:n.351-2_361del
NM_000709.3:c.109-2_119del
NM_001164783.1:c.109-2_119del
NM_000709.4:c.109-2_119del
NM_001164783.2:c.109-2_119del