Canonical Allele Identifier: CA2679499386

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343830-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343833del , CM000668.2:g.80343833del	GRCh38
NC_000006.11:g.81053550del , CM000668.1:g.81053550del	GRCh37
NC_000006.10:g.81110269del	NCBI36
NG_009775.1:g.242207del
NG_009775.2:g.242207del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*29del MANE Select	ENSP00000318351.5:n.*29del
ENST00000320393.8:c.*29del	ENSP00000318351.5:n.*29del
ENST00000356489.9:c.*8+21del	ENSP00000348880.5:n.*8+21del
ENST00000491328.1:n.242+21del
NM_000056.3:c.*8+21del	NP_000047.1:n.*8+21del
NM_183050.2:c.*29del	NP_898871.1:n.*29del
NM_000056.4:c.*8+21del	NP_000047.1:n.*8+21del
NM_001318975.1:c.*29del	NP_001305904.1:n.*29del
NM_183050.3:c.*29del	NP_898871.1:n.*29del
NR_134945.1:n.1386del
XM_011536024.3:c.*214del	XP_011534326.1:n.*214del
XR_001743546.2:n.1068+70612del
XR_001743547.2:n.1068+70612del
XR_001743548.2:n.1068+70612del
XR_001743549.2:n.1068+70612del
XR_002956292.1:n.1068+70612del
NM_183050.4:c.*29del MANE Select	NP_898871.1:n.*29del
NR_134945.2:n.1325del
NM_000056.5:c.*8+21del	NP_000047.1:n.*8+21del