Canonical Allele Identifier: CA2336459319

Gene: BCKDHA

Linked Data

• dbSNP Id: rs2039384744
• gnomAD v4: 19-41422861-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41422863del , CM000681.2:g.41422863del	GRCh38
NC_000019.9:g.41928768del , CM000681.1:g.41928768del	GRCh37
NC_000019.8:g.46620608del	NCBI36
NG_013004.1:g.30075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000269980.7:c.995+93del MANE Select	ENSP00000269980.2:n.995+93del
ENST00000269980.6:c.995+93del	ENSP00000269980.2:n.995+93del
ENST00000457836.6:c.930-60del	ENSP00000416000.2:n.930-60del
ENST00000540732.3:c.1097+93del	ENSP00000443246.1:n.1097+93del
ENST00000542943.5:c.908+93del	ENSP00000440345.1:n.908+93del
ENST00000595085.5:c.922+166del	ENSP00000471150.2:n.922+166del
NM_000709.3:c.995+93del	NP_000700.1:n.995+93del
NM_001164783.1:c.992+93del	NP_001158255.1:n.992+93del
NM_000709.4:c.995+93del MANE Select	NP_000700.1:n.995+93del
NM_001164783.2:c.992+93del	NP_001158255.1:n.992+93del