Canonical Allele Identifier: CA1641009905

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343848_80343849delinsCT , CM000668.2:g.80343848_80343849delinsCT	GRCh38
NC_000006.11:g.81053565_81053566delinsCT , CM000668.1:g.81053565_81053566delinsCT	GRCh37
NC_000006.10:g.81110284_81110285delinsCT	NCBI36
NG_009775.1:g.242222_242223delinsCT
NG_009775.2:g.242222_242223delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*44_*45delinsCT MANE Select	ENSP00000318351.5:n.*44_*45delinsCT
ENST00000320393.8:c.*44_*45delinsCT	ENSP00000318351.5:n.*44_*45delinsCT
ENST00000356489.9:c.*8+36_*8+37delinsCT	ENSP00000348880.5:n.*8+36_*8+37delinsCT
ENST00000491328.1:n.242+36_242+37delinsCT
NM_000056.3:c.*8+36_*8+37delinsCT	NP_000047.1:n.*8+36_*8+37delinsCT
NM_183050.2:c.*44_*45delinsCT	NP_898871.1:n.*44_*45delinsCT
NM_000056.4:c.*8+36_*8+37delinsCT	NP_000047.1:n.*8+36_*8+37delinsCT
NM_001318975.1:c.*44_*45delinsCT	NP_001305904.1:n.*44_*45delinsCT
NM_183050.3:c.*44_*45delinsCT	NP_898871.1:n.*44_*45delinsCT
NR_134945.1:n.1401_1402delinsCT
XM_011536024.3:c.*229_*230delinsCT	XP_011534326.1:n.*229_*230delinsCT
XR_001743546.2:n.1068+70627_1068+70628delinsCT
XR_001743547.2:n.1068+70627_1068+70628delinsCT
XR_001743548.2:n.1068+70627_1068+70628delinsCT
XR_001743549.2:n.1068+70627_1068+70628delinsCT
XR_002956292.1:n.1068+70627_1068+70628delinsCT
NM_183050.4:c.*44_*45delinsCT MANE Select	NP_898871.1:n.*44_*45delinsCT
NR_134945.2:n.1340_1341delinsCT
NM_000056.5:c.*8+36_*8+37delinsCT	NP_000047.1:n.*8+36_*8+37delinsCT