Canonical Allele Identifier: CA2831039051

Gene: BCKDHA

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41423034_41423037del , CM000681.2:g.41423034_41423037del	GRCh38
NC_000019.9:g.41928939_41928942del , CM000681.1:g.41928939_41928942del	GRCh37
NC_000019.8:g.46620779_46620782del	NCBI36
NG_013004.1:g.30246_30249del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.1032_1035del MANE Select	ENSP00000269980.2:p.Tyr345AlafsTer24
ENST00000269980.6:c.1032_1035del	ENSP00000269980.2:p.Tyr345AlafsTer24
ENST00000457836.6:c.1041_1044del	ENSP00000416000.2:p.Tyr348AlafsTer24
ENST00000540732.3:c.1134_1137del	ENSP00000443246.1:p.Tyr379AlafsTer24
ENST00000542943.5:c.945_948del	ENSP00000440345.1:p.Tyr316AlafsTer?
ENST00000595085.5:c.922+337_922+340del	ENSP00000471150.2:n.922+337_922+340del
NM_000709.3:c.1032_1035del	NP_000700.1:p.Tyr345AlafsTer24
NM_001164783.1:c.1029_1032del	NP_001158255.1:p.Tyr344AlafsTer24
NM_000709.4:c.1032_1035del MANE Select	NP_000700.1:p.Tyr345AlafsTer24
NM_001164783.2:c.1029_1032del	NP_001158255.1:p.Tyr344AlafsTer24