Canonical Allele Identifier: CA633470357

Gene: BCKDHA

Linked Data

• dbSNP Id: rs1341544968
• gnomAD v2: 19-41928525-TC-T
• gnomAD v4: 19-41422620-TC-T
• MyVariant Identifiers: chr19:g.41928526del (hg19) ; chr19:g.41422621del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422624del , CM000681.2:g.41422624del	GRCh38
NC_000019.9:g.41928529del , CM000681.1:g.41928529del	GRCh37
NC_000019.8:g.46620369del	NCBI36
NG_013004.1:g.29836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.854-5del MANE Select	ENSP00000269980.2:n.854-5del
ENST00000269980.6:c.854-5del	ENSP00000269980.2:n.854-5del
ENST00000457836.6:c.788-5del	ENSP00000416000.2:n.788-5del
ENST00000535632.5:n.483-5del
ENST00000540732.3:c.956-5del	ENSP00000443246.1:n.956-5del
ENST00000542943.5:c.767-5del	ENSP00000440345.1:n.767-5del
ENST00000545787.1:n.482-5del
ENST00000595085.5:c.854-5del	ENSP00000471150.2:n.854-5del
NM_000709.3:c.854-5del	NP_000700.1:n.854-5del
NM_001164783.1:c.854-8del	NP_001158255.1:n.854-8del
NM_000709.4:c.854-5del MANE Select	NP_000700.1:n.854-5del
NM_001164783.2:c.854-8del	NP_001158255.1:n.854-8del