Canonical Allele Identifier: CA507690771

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 557703
• ClinVar RCV Id: RCV000673876 ; RCV002469253
• dbSNP Id: rs1330793674
• gnomAD v2: 19-41928908-GGCACCACA-G
• gnomAD v4: 19-41423003-GGCACCACA-G
• MyVariant Identifiers: chr19:g.41928909_41928916del (hg19) ; chr19:g.41423010_41423017del (hg38) ; chr19:g.41423004_41423011del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423010_41423017del , CM000681.2:g.41423010_41423017del	GRCh38
NC_000019.9:g.41928915_41928922del , CM000681.1:g.41928915_41928922del	GRCh37
NC_000019.8:g.46620755_46620762del	NCBI36
NG_013004.1:g.30222_30229del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1008_1015del MANE Select	ENSP00000269980.2:p.His336GlnfsTer2
ENST00000269980.6:c.1008_1015del	ENSP00000269980.2:p.His336GlnfsTer2
ENST00000457836.6:c.1017_1024del	ENSP00000416000.2:p.His339GlnfsTer2
ENST00000540732.3:c.1110_1117del	ENSP00000443246.1:p.His370GlnfsTer2
ENST00000542943.5:c.921_928del	ENSP00000440345.1:p.His307GlnfsTer2
ENST00000595085.5:c.922+313_922+320del	ENSP00000471150.2:n.922+313_922+320del
NM_000709.3:c.1008_1015del	NP_000700.1:p.His336GlnfsTer2
NM_001164783.1:c.1005_1012del	NP_001158255.1:p.His335GlnfsTer2
NM_000709.4:c.1008_1015del MANE Select	NP_000700.1:p.His336GlnfsTer2
NM_001164783.2:c.1005_1012del	NP_001158255.1:p.His335GlnfsTer2