Canonical Allele Identifier: CA2679496971

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80106880-C-CGGGAGTACGGTGAGCCCT

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106885_80106902dup , CM000668.2:g.80106885_80106902dup	GRCh38
NC_000006.11:g.80816602_80816619dup , CM000668.1:g.80816602_80816619dup	GRCh37
NC_000006.10:g.80873321_80873338dup	NCBI36
NG_009775.1:g.5259_5276dup
NG_009775.2:g.5259_5276dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.192_196+13dup
ENST00000320393.8:c.192_196+13dup
ENST00000356489.9:c.192_196+13dup
ENST00000369760.8:c.192_196+13dup
NM_000056.3:c.192_196+13dup
NM_183050.2:c.192_196+13dup
XM_005248756.3:c.192_196+13dup
XM_006715542.2:c.-15+202_-15+219dup	XP_006715605.1:n.-15+202_-15+219dup
XM_011536023.1:c.192_196+13dup
XM_011536024.1:c.192_196+13dup
XM_011536025.1:c.192_196+13dup
XM_011536027.1:c.192_196+13dup
NM_000056.4:c.192_196+13dup
NM_001318975.1:c.-15+202_-15+219dup	NP_001305904.1:n.-15+202_-15+219dup
NM_183050.3:c.192_196+13dup
NR_134945.1:n.276_280+13dup
XM_005248756.5:c.192_196+13dup
XM_011536023.3:c.192_196+13dup
XM_011536024.3:c.192_196+13dup
XM_011536025.3:c.192_196+13dup
XR_001743546.2:n.222_226+13dup
XR_001743547.2:n.222_226+13dup
XR_001743548.2:n.222_226+13dup
XR_001743549.2:n.222_226+13dup
XR_002956292.1:n.222_226+13dup
NM_183050.4:c.192_196+13dup
NR_134945.2:n.215_219+13dup
NM_000056.5:c.192_196+13dup