Canonical Allele Identifier: CA913016477

Gene: BCKDHA

Linked Data

• MyVariant Identifiers: chr19:g.41928908_41928916del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423004_41423012del , CM000681.2:g.41423004_41423012del	GRCh38
NC_000019.9:g.41928909_41928917del , CM000681.1:g.41928909_41928917del	GRCh37
NC_000019.8:g.46620749_46620757del	NCBI36
NG_013004.1:g.30216_30224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1002_1010del MANE Select	ENSP00000269980.2:p.His335_Ser337del
ENST00000269980.6:c.1002_1010del	ENSP00000269980.2:p.His335_Ser337del
ENST00000457836.6:c.1011_1019del	ENSP00000416000.2:p.His338_Ser340del
ENST00000540732.3:c.1104_1112del	ENSP00000443246.1:p.His369_Ser371del
ENST00000542943.5:c.915_923del	ENSP00000440345.1:p.His306_Ser308del
ENST00000595085.5:c.922+307_922+315del	ENSP00000471150.2:n.922+307_922+315del
NM_000709.3:c.1002_1010del	NP_000700.1:p.His335_Ser337del
NM_001164783.1:c.999_1007del	NP_001158255.1:p.His334_Ser336del
NM_000709.4:c.1002_1010del MANE Select	NP_000700.1:p.His335_Ser337del
NM_001164783.2:c.999_1007del	NP_001158255.1:p.His334_Ser336del