Canonical Allele Identifier: CA2679499400

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80343877-CAGCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343879_80343882del , CM000668.2:g.80343879_80343882del	GRCh38
NC_000006.11:g.81053596_81053599del , CM000668.1:g.81053596_81053599del	GRCh37
NC_000006.10:g.81110315_81110318del	NCBI36
NG_009775.1:g.242253_242256del
NG_009775.2:g.242253_242256del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*75_*78del MANE Select	ENSP00000318351.5:n.*75_*78del
ENST00000320393.8:c.*75_*78del	ENSP00000318351.5:n.*75_*78del
ENST00000356489.9:c.*8+67_*8+70del	ENSP00000348880.5:n.*8+67_*8+70del
ENST00000491328.1:n.242+67_242+70del
NM_000056.3:c.*8+67_*8+70del	NP_000047.1:n.*8+67_*8+70del
NM_183050.2:c.*75_*78del	NP_898871.1:n.*75_*78del
NM_000056.4:c.*8+67_*8+70del	NP_000047.1:n.*8+67_*8+70del
NM_001318975.1:c.*75_*78del	NP_001305904.1:n.*75_*78del
NM_183050.3:c.*75_*78del	NP_898871.1:n.*75_*78del
NR_134945.1:n.1432_1435del
XM_011536024.3:c.*260_*263del	XP_011534326.1:n.*260_*263del
XR_001743546.2:n.1068+70658_1068+70661del
XR_001743547.2:n.1068+70658_1068+70661del
XR_001743548.2:n.1068+70658_1068+70661del
XR_001743549.2:n.1068+70658_1068+70661del
XR_002956292.1:n.1068+70658_1068+70661del
NM_183050.4:c.*75_*78del MANE Select	NP_898871.1:n.*75_*78del
NR_134945.2:n.1371_1374del
NM_000056.5:c.*8+67_*8+70del	NP_000047.1:n.*8+67_*8+70del