Canonical Allele Identifier: CA1641009900

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343842_80343848delinsGTGCCCC , CM000668.2:g.80343842_80343848delinsGTGCCCC	GRCh38
NC_000006.11:g.81053559_81053565delinsGTGCCCC , CM000668.1:g.81053559_81053565delinsGTGCCCC	GRCh37
NC_000006.10:g.81110278_81110284delinsGTGCCCC	NCBI36
NG_009775.1:g.242216_242222delinsGTGCCCC
NG_009775.2:g.242216_242222delinsGTGCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*38_*44delinsGTGCCCC MANE Select	ENSP00000318351.5:n.*38_*44delinsGTGCCCC
ENST00000320393.8:c.*38_*44delinsGTGCCCC	ENSP00000318351.5:n.*38_*44delinsGTGCCCC
ENST00000356489.9:c.*8+30_*8+36delinsGTGCCCC	ENSP00000348880.5:n.*8+30_*8+36delinsGTGCCCC
ENST00000491328.1:n.242+30_242+36delinsGTGCCCC
NM_000056.3:c.*8+30_*8+36delinsGTGCCCC	NP_000047.1:n.*8+30_*8+36delinsGTGCCCC
NM_183050.2:c.*38_*44delinsGTGCCCC	NP_898871.1:n.*38_*44delinsGTGCCCC
NM_000056.4:c.*8+30_*8+36delinsGTGCCCC	NP_000047.1:n.*8+30_*8+36delinsGTGCCCC
NM_001318975.1:c.*38_*44delinsGTGCCCC	NP_001305904.1:n.*38_*44delinsGTGCCCC
NM_183050.3:c.*38_*44delinsGTGCCCC	NP_898871.1:n.*38_*44delinsGTGCCCC
NR_134945.1:n.1395_1401delinsGTGCCCC
XM_011536024.3:c.*223_*229delinsGTGCCCC	XP_011534326.1:n.*223_*229delinsGTGCCCC
XR_001743546.2:n.1068+70621_1068+70627delinsGTGCCCC
XR_001743547.2:n.1068+70621_1068+70627delinsGTGCCCC
XR_001743548.2:n.1068+70621_1068+70627delinsGTGCCCC
XR_001743549.2:n.1068+70621_1068+70627delinsGTGCCCC
XR_002956292.1:n.1068+70621_1068+70627delinsGTGCCCC
NM_183050.4:c.*38_*44delinsGTGCCCC MANE Select	NP_898871.1:n.*38_*44delinsGTGCCCC
NR_134945.2:n.1334_1340delinsGTGCCCC
NM_000056.5:c.*8+30_*8+36delinsGTGCCCC	NP_000047.1:n.*8+30_*8+36delinsGTGCCCC