Canonical Allele Identifier: CA2585306844

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41411033-CG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41411039del , CM000681.2:g.41411039del	GRCh38
NC_000019.9:g.41916944del , CM000681.1:g.41916944del	GRCh37
NC_000019.8:g.46608784del	NCBI36
NG_013004.1:g.18251del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.375+30del MANE Select	ENSP00000269980.2:n.375+30del
ENST00000269980.6:c.375+30del	ENSP00000269980.2:n.375+30del
ENST00000457836.6:c.309+30del	ENSP00000416000.2:n.309+30del
ENST00000538423.5:n.501+30del
ENST00000540732.3:c.477+30del	ENSP00000443246.1:n.477+30del
ENST00000541315.1:c.182+30del
ENST00000542943.5:c.288+223del	ENSP00000440345.1:n.288+223del
ENST00000595085.5:c.375+30del	ENSP00000471150.2:n.375+30del
NM_000709.3:c.375+30del	NP_000700.1:n.375+30del
NM_001164783.1:c.375+30del	NP_001158255.1:n.375+30del
NM_000709.4:c.375+30del MANE Select	NP_000700.1:n.375+30del
NM_001164783.2:c.375+30del	NP_001158255.1:n.375+30del