Canonical Allele Identifier: CA2578760104

Gene: BCKDHB

Genomic Alleles

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

Transcript Alleles

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