Canonical Allele Identifier: CA2739276838

Gene: BCKDHA

Linked Data

• ClinVar Variation Id: 2857383
• ClinVar RCV Id: RCV003635412

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422977_41422984del , CM000681.2:g.41422977_41422984del	GRCh38
NC_000019.9:g.41928882_41928889del , CM000681.1:g.41928882_41928889del	GRCh37
NC_000019.8:g.46620722_46620729del	NCBI36
NG_013004.1:g.30189_30196del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.996-21_996-14del MANE Select	ENSP00000269980.2:n.996-21_996-14del
ENST00000269980.6:c.996-21_996-14del	ENSP00000269980.2:n.996-21_996-14del
ENST00000457836.6:c.984_991del	ENSP00000416000.2:p.Trp328CysfsTer13
ENST00000540732.3:c.1098-21_1098-14del	ENSP00000443246.1:n.1098-21_1098-14del
ENST00000542943.5:c.909-21_909-14del	ENSP00000440345.1:n.909-21_909-14del
ENST00000595085.5:c.922+280_922+287del	ENSP00000471150.2:n.922+280_922+287del
NM_000709.3:c.996-21_996-14del	NP_000700.1:n.996-21_996-14del
NM_001164783.1:c.993-21_993-14del	NP_001158255.1:n.993-21_993-14del
NM_000709.4:c.996-21_996-14del MANE Select	NP_000700.1:n.996-21_996-14del
NM_001164783.2:c.993-21_993-14del	NP_001158255.1:n.993-21_993-14del