Canonical Allele Identifier: CA1641009903

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343844_80343845delinsGC , CM000668.2:g.80343844_80343845delinsGC	GRCh38
NC_000006.11:g.81053561_81053562delinsGC , CM000668.1:g.81053561_81053562delinsGC	GRCh37
NC_000006.10:g.81110280_81110281delinsGC	NCBI36
NG_009775.1:g.242218_242219delinsGC
NG_009775.2:g.242218_242219delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*40_*41delinsGC MANE Select	ENSP00000318351.5:n.*40_*41delinsGC
ENST00000320393.8:c.*40_*41delinsGC	ENSP00000318351.5:n.*40_*41delinsGC
ENST00000356489.9:c.*8+32_*8+33delinsGC	ENSP00000348880.5:n.*8+32_*8+33delinsGC
ENST00000491328.1:n.242+32_242+33delinsGC
NM_000056.3:c.*8+32_*8+33delinsGC	NP_000047.1:n.*8+32_*8+33delinsGC
NM_183050.2:c.*40_*41delinsGC	NP_898871.1:n.*40_*41delinsGC
NM_000056.4:c.*8+32_*8+33delinsGC	NP_000047.1:n.*8+32_*8+33delinsGC
NM_001318975.1:c.*40_*41delinsGC	NP_001305904.1:n.*40_*41delinsGC
NM_183050.3:c.*40_*41delinsGC	NP_898871.1:n.*40_*41delinsGC
NR_134945.1:n.1397_1398delinsGC
XM_011536024.3:c.*225_*226delinsGC	XP_011534326.1:n.*225_*226delinsGC
XR_001743546.2:n.1068+70623_1068+70624delinsGC
XR_001743547.2:n.1068+70623_1068+70624delinsGC
XR_001743548.2:n.1068+70623_1068+70624delinsGC
XR_001743549.2:n.1068+70623_1068+70624delinsGC
XR_002956292.1:n.1068+70623_1068+70624delinsGC
NM_183050.4:c.*40_*41delinsGC MANE Select	NP_898871.1:n.*40_*41delinsGC
NR_134945.2:n.1336_1337delinsGC
NM_000056.5:c.*8+32_*8+33delinsGC	NP_000047.1:n.*8+32_*8+33delinsGC