Canonical Allele Identifier: CA146884

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 93389
• ClinVar RCV Id: RCV000079273 ; RCV001682764 ; RCV001554052
• dbSNP Id: rs3217385
• ExAC: 19:41928867 G / GC
• gnomAD v2: 19-41928867-G-GC
• gnomAD v3: 19-41422962-G-GC
• gnomAD v4: 19-41422962-G-GC
• COSMIC: COSN15647508 ; COSN15647509 ; COSN15647510 ; COSN15647511 ; COSN15647512 ; COSN15647513 ; COSN15647514 ; COSN15647515 ; COSN15647516 ; COSN15647517 ; COSN15647518 ; COSN15647519 ; COSN15647520 ; COSN15647521 ; COSN15647522 ; COSN15647523
• MyVariant Identifiers: chr19:g.41928870dup (hg19) ; chr19:g.41928870dupC (hg19) ; chr19:g.41928867_41928868insC (hg19) ; chr19:g.41422965dupC (hg38) ; chr19:g.41422962_41422963insC (hg38)
• PubMed: PMID:23757202

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422965dup , CM000681.2:g.41422965dup	GRCh38
NC_000019.9:g.41928870dup , CM000681.1:g.41928870dup	GRCh37
NC_000019.8:g.46620710dup	NCBI36
NG_013004.1:g.30177dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-33dup MANE Select	ENSP00000269980.2:n.996-33dup
ENST00000269980.6:c.996-33dup	ENSP00000269980.2:n.996-33dup
ENST00000457836.6:c.972dup	ENSP00000416000.2:p.Thr325HisfsTer19
ENST00000540732.3:c.1098-33dup	ENSP00000443246.1:n.1098-33dup
ENST00000542943.5:c.909-33dup	ENSP00000440345.1:n.909-33dup
ENST00000595085.5:c.922+268dup	ENSP00000471150.2:n.922+268dup
NM_000709.3:c.996-33dup	NP_000700.1:n.996-33dup
NM_001164783.1:c.993-33dup	NP_001158255.1:n.993-33dup
NM_000709.4:c.996-33dup MANE Select	NP_000700.1:n.996-33dup
NM_001164783.2:c.993-33dup	NP_001158255.1:n.993-33dup