Canonical Allele Identifier: CA2679499388

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343834-GCTA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343838_80343840del , CM000668.2:g.80343838_80343840del	GRCh38
NC_000006.11:g.81053555_81053557del , CM000668.1:g.81053555_81053557del	GRCh37
NC_000006.10:g.81110274_81110276del	NCBI36
NG_009775.1:g.242212_242214del
NG_009775.2:g.242212_242214del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*34_*36del MANE Select	ENSP00000318351.5:n.*34_*36del
ENST00000320393.8:c.*34_*36del	ENSP00000318351.5:n.*34_*36del
ENST00000356489.9:c.*8+26_*8+28del	ENSP00000348880.5:n.*8+26_*8+28del
ENST00000491328.1:n.242+26_242+28del
NM_000056.3:c.*8+26_*8+28del	NP_000047.1:n.*8+26_*8+28del
NM_183050.2:c.*34_*36del	NP_898871.1:n.*34_*36del
NM_000056.4:c.*8+26_*8+28del	NP_000047.1:n.*8+26_*8+28del
NM_001318975.1:c.*34_*36del	NP_001305904.1:n.*34_*36del
NM_183050.3:c.*34_*36del	NP_898871.1:n.*34_*36del
NR_134945.1:n.1391_1393del
XM_011536024.3:c.*219_*221del	XP_011534326.1:n.*219_*221del
XR_001743546.2:n.1068+70617_1068+70619del
XR_001743547.2:n.1068+70617_1068+70619del
XR_001743548.2:n.1068+70617_1068+70619del
XR_001743549.2:n.1068+70617_1068+70619del
XR_002956292.1:n.1068+70617_1068+70619del
NM_183050.4:c.*34_*36del MANE Select	NP_898871.1:n.*34_*36del
NR_134945.2:n.1330_1332del
NM_000056.5:c.*8+26_*8+28del	NP_000047.1:n.*8+26_*8+28del