Canonical Allele Identifier: CA882343439

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 1654813
• ClinVar RCV Id: RCV002156334
• dbSNP Id: rs1489683670
• gnomAD v3: 19-41414161-C-CGTCT
• gnomAD v4: 19-41414161-C-CGTCT
• MyVariant Identifiers: chr19:g.41920066_41920067insGTCT (hg19) ; chr19:g.41414161_41414162insGTCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41414165_41414168dup , CM000681.2:g.41414165_41414168dup	GRCh38
NC_000019.9:g.41920070_41920073dup , CM000681.1:g.41920070_41920073dup	GRCh37
NC_000019.8:g.46611910_46611913dup	NCBI36
NG_013004.1:g.21377_21380dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000269980.7:c.484+8_484+11dup MANE Select	ENSP00000269980.2:n.484+8_484+11dup
ENST00000269980.6:c.484+8_484+11dup	ENSP00000269980.2:n.484+8_484+11dup
ENST00000457836.6:c.418+8_418+11dup	ENSP00000416000.2:n.418+8_418+11dup
ENST00000538423.5:n.610+8_610+11dup
ENST00000540732.3:c.586+8_586+11dup	ENSP00000443246.1:n.586+8_586+11dup
ENST00000541315.1:c.291+8_291+11dup
ENST00000542943.5:c.397+8_397+11dup	ENSP00000440345.1:n.397+8_397+11dup
ENST00000595085.5:c.484+8_484+11dup	ENSP00000471150.2:n.484+8_484+11dup
NM_000709.3:c.484+8_484+11dup	NP_000700.1:n.484+8_484+11dup
NM_001164783.1:c.484+8_484+11dup	NP_001158255.1:n.484+8_484+11dup
NM_000709.4:c.484+8_484+11dup MANE Select	NP_000700.1:n.484+8_484+11dup
NM_001164783.2:c.484+8_484+11dup	NP_001158255.1:n.484+8_484+11dup