Canonical Allele Identifier: CA2585308197

Gene: BCKDHA

Linked Data

• gnomAD v4: 19-41422927-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422932del , CM000681.2:g.41422932del	GRCh38
NC_000019.9:g.41928837del , CM000681.1:g.41928837del	GRCh37
NC_000019.8:g.46620677del	NCBI36
NG_013004.1:g.30144del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-66del MANE Select	ENSP00000269980.2:n.996-66del
ENST00000269980.6:c.996-66del	ENSP00000269980.2:n.996-66del
ENST00000457836.6:c.939del	ENSP00000416000.2:p.Ile314SerfsTer13
ENST00000540732.3:c.1098-66del	ENSP00000443246.1:n.1098-66del
ENST00000542943.5:c.909-66del	ENSP00000440345.1:n.909-66del
ENST00000595085.5:c.922+235del	ENSP00000471150.2:n.922+235del
NM_000709.3:c.996-66del	NP_000700.1:n.996-66del
NM_001164783.1:c.993-66del	NP_001158255.1:n.993-66del
NM_000709.4:c.996-66del MANE Select	NP_000700.1:n.996-66del
NM_001164783.2:c.993-66del	NP_001158255.1:n.993-66del