Canonical Allele Identifier: CA2679497018

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80106956-A-AG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106960dup , CM000668.2:g.80106960dup	GRCh38
NC_000006.11:g.80816677dup , CM000668.1:g.80816677dup	GRCh37
NC_000006.10:g.80873396dup	NCBI36
NG_009775.1:g.5334dup
NG_009775.2:g.5334dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.196+71dup MANE Select	ENSP00000318351.5:n.196+71dup
ENST00000320393.8:c.196+71dup	ENSP00000318351.5:n.196+71dup
ENST00000356489.9:c.196+71dup	ENSP00000348880.5:n.196+71dup
ENST00000369760.8:c.196+71dup	ENSP00000358775.4:n.196+71dup
NM_000056.3:c.196+71dup	NP_000047.1:n.196+71dup
NM_183050.2:c.196+71dup	NP_898871.1:n.196+71dup
XM_005248756.3:c.196+71dup	XP_005248813.1:n.196+71dup
XM_006715542.2:c.-15+277dup	XP_006715605.1:n.-15+277dup
XM_011536023.1:c.196+71dup	XP_011534325.1:n.196+71dup
XM_011536024.1:c.196+71dup	XP_011534326.1:n.196+71dup
XM_011536025.1:c.196+71dup	XP_011534327.1:n.196+71dup
XM_011536027.1:c.196+71dup	XP_011534329.1:n.196+71dup
NM_000056.4:c.196+71dup	NP_000047.1:n.196+71dup
NM_001318975.1:c.-15+277dup	NP_001305904.1:n.-15+277dup
NM_183050.3:c.196+71dup	NP_898871.1:n.196+71dup
NR_134945.1:n.280+71dup
XM_005248756.5:c.196+71dup	XP_005248813.1:n.196+71dup
XM_011536023.3:c.196+71dup	XP_011534325.1:n.196+71dup
XM_011536024.3:c.196+71dup	XP_011534326.1:n.196+71dup
XM_011536025.3:c.196+71dup	XP_011534327.1:n.196+71dup
XR_001743546.2:n.226+71dup
XR_001743547.2:n.226+71dup
XR_001743548.2:n.226+71dup
XR_001743549.2:n.226+71dup
XR_002956292.1:n.226+71dup
NM_183050.4:c.196+71dup MANE Select	NP_898871.1:n.196+71dup
NR_134945.2:n.219+71dup
NM_000056.5:c.196+71dup	NP_000047.1:n.196+71dup