Canonical Allele Identifier: CA1641009887

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343827_80343828delinsTG , CM000668.2:g.80343827_80343828delinsTG	GRCh38
NC_000006.11:g.81053544_81053545delinsTG , CM000668.1:g.81053544_81053545delinsTG	GRCh37
NC_000006.10:g.81110263_81110264delinsTG	NCBI36
NG_009775.1:g.242201_242202delinsTG
NG_009775.2:g.242201_242202delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*23_*24delinsTG MANE Select	ENSP00000318351.5:n.*23_*24delinsTG
ENST00000320393.8:c.*23_*24delinsTG	ENSP00000318351.5:n.*23_*24delinsTG
ENST00000356489.9:c.*8+15_*8+16delinsTG	ENSP00000348880.5:n.*8+15_*8+16delinsTG
ENST00000491328.1:n.242+15_242+16delinsTG
NM_000056.3:c.*8+15_*8+16delinsTG	NP_000047.1:n.*8+15_*8+16delinsTG
NM_183050.2:c.*23_*24delinsTG	NP_898871.1:n.*23_*24delinsTG
NM_000056.4:c.*8+15_*8+16delinsTG	NP_000047.1:n.*8+15_*8+16delinsTG
NM_001318975.1:c.*23_*24delinsTG	NP_001305904.1:n.*23_*24delinsTG
NM_183050.3:c.*23_*24delinsTG	NP_898871.1:n.*23_*24delinsTG
NR_134945.1:n.1380_1381delinsTG
XM_011536024.3:c.*208_*209delinsTG	XP_011534326.1:n.*208_*209delinsTG
XR_001743546.2:n.1068+70606_1068+70607delinsTG
XR_001743547.2:n.1068+70606_1068+70607delinsTG
XR_001743548.2:n.1068+70606_1068+70607delinsTG
XR_001743549.2:n.1068+70606_1068+70607delinsTG
XR_002956292.1:n.1068+70606_1068+70607delinsTG
NM_183050.4:c.*23_*24delinsTG MANE Select	NP_898871.1:n.*23_*24delinsTG
NR_134945.2:n.1319_1320delinsTG
NM_000056.5:c.*8+15_*8+16delinsTG	NP_000047.1:n.*8+15_*8+16delinsTG