Canonical Allele Identifier: CA2679499397

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343873-GAC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343877_80343878del , CM000668.2:g.80343877_80343878del	GRCh38
NC_000006.11:g.81053594_81053595del , CM000668.1:g.81053594_81053595del	GRCh37
NC_000006.10:g.81110313_81110314del	NCBI36
NG_009775.1:g.242251_242252del
NG_009775.2:g.242251_242252del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*73_*74del MANE Select	ENSP00000318351.5:n.*73_*74del
ENST00000320393.8:c.*73_*74del	ENSP00000318351.5:n.*73_*74del
ENST00000356489.9:c.*8+65_*8+66del	ENSP00000348880.5:n.*8+65_*8+66del
ENST00000491328.1:n.242+65_242+66del
NM_000056.3:c.*8+65_*8+66del	NP_000047.1:n.*8+65_*8+66del
NM_183050.2:c.*73_*74del	NP_898871.1:n.*73_*74del
NM_000056.4:c.*8+65_*8+66del	NP_000047.1:n.*8+65_*8+66del
NM_001318975.1:c.*73_*74del	NP_001305904.1:n.*73_*74del
NM_183050.3:c.*73_*74del	NP_898871.1:n.*73_*74del
NR_134945.1:n.1430_1431del
XM_011536024.3:c.*258_*259del	XP_011534326.1:n.*258_*259del
XR_001743546.2:n.1068+70656_1068+70657del
XR_001743547.2:n.1068+70656_1068+70657del
XR_001743548.2:n.1068+70656_1068+70657del
XR_001743549.2:n.1068+70656_1068+70657del
XR_002956292.1:n.1068+70656_1068+70657del
NM_183050.4:c.*73_*74del MANE Select	NP_898871.1:n.*73_*74del
NR_134945.2:n.1369_1370del
NM_000056.5:c.*8+65_*8+66del	NP_000047.1:n.*8+65_*8+66del