Canonical Allele Identifier: CA2679499399

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343875-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343876del , CM000668.2:g.80343876del	GRCh38
NC_000006.11:g.81053593del , CM000668.1:g.81053593del	GRCh37
NC_000006.10:g.81110312del	NCBI36
NG_009775.1:g.242250del
NG_009775.2:g.242250del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*72del MANE Select	ENSP00000318351.5:n.*72del
ENST00000320393.8:c.*72del	ENSP00000318351.5:n.*72del
ENST00000356489.9:c.*8+64del	ENSP00000348880.5:n.*8+64del
ENST00000491328.1:n.242+64del
NM_000056.3:c.*8+64del	NP_000047.1:n.*8+64del
NM_183050.2:c.*72del	NP_898871.1:n.*72del
NM_000056.4:c.*8+64del	NP_000047.1:n.*8+64del
NM_001318975.1:c.*72del	NP_001305904.1:n.*72del
NM_183050.3:c.*72del	NP_898871.1:n.*72del
NR_134945.1:n.1429del
XM_011536024.3:c.*257del	XP_011534326.1:n.*257del
XR_001743546.2:n.1068+70655del
XR_001743547.2:n.1068+70655del
XR_001743548.2:n.1068+70655del
XR_001743549.2:n.1068+70655del
XR_002956292.1:n.1068+70655del
NM_183050.4:c.*72del MANE Select	NP_898871.1:n.*72del
NR_134945.2:n.1368del
NM_000056.5:c.*8+64del	NP_000047.1:n.*8+64del