Canonical Allele Identifier: CA1641009902

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1770047669
• gnomAD v4: 6-80343842-GTGCCCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343845_80343850del , CM000668.2:g.80343845_80343850del	GRCh38
NC_000006.11:g.81053562_81053567del , CM000668.1:g.81053562_81053567del	GRCh37
NC_000006.10:g.81110281_81110286del	NCBI36
NG_009775.1:g.242219_242224del
NG_009775.2:g.242219_242224del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*41_*46del MANE Select	ENSP00000318351.5:n.*41_*46del
ENST00000320393.8:c.*41_*46del	ENSP00000318351.5:n.*41_*46del
ENST00000356489.9:c.*8+33_*8+38del	ENSP00000348880.5:n.*8+33_*8+38del
ENST00000491328.1:n.242+33_242+38del
NM_000056.3:c.*8+33_*8+38del	NP_000047.1:n.*8+33_*8+38del
NM_183050.2:c.*41_*46del	NP_898871.1:n.*41_*46del
NM_000056.4:c.*8+33_*8+38del	NP_000047.1:n.*8+33_*8+38del
NM_001318975.1:c.*41_*46del	NP_001305904.1:n.*41_*46del
NM_183050.3:c.*41_*46del	NP_898871.1:n.*41_*46del
NR_134945.1:n.1398_1403del
XM_011536024.3:c.*226_*231del	XP_011534326.1:n.*226_*231del
XR_001743546.2:n.1068+70624_1068+70629del
XR_001743547.2:n.1068+70624_1068+70629del
XR_001743548.2:n.1068+70624_1068+70629del
XR_001743549.2:n.1068+70624_1068+70629del
XR_002956292.1:n.1068+70624_1068+70629del
NM_183050.4:c.*41_*46del MANE Select	NP_898871.1:n.*41_*46del
NR_134945.2:n.1337_1342del
NM_000056.5:c.*8+33_*8+38del	NP_000047.1:n.*8+33_*8+38del