Canonical Allele Identifier: CA1090990266

Gene: BCKDHB

Linked Data

• gnomAD v3: 6-80168318-A-AGAGAGGGGAGAGGGAAGAAGG
• gnomAD v4: 6-80168318-A-AGAGAGGGGAGAGGGAAGAAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168331_80168351dup , CM000668.2:g.80168331_80168351dup	GRCh38
NC_000006.11:g.80878048_80878068dup , CM000668.1:g.80878048_80878068dup	GRCh37
NC_000006.10:g.80934767_80934787dup	NCBI36
NG_009775.1:g.66705_66725dup
NG_009775.2:g.66705_66725dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.477+520_478-524dup MANE Select	ENSP00000318351.5:n.477+520_478-524dup
ENST00000320393.8:c.477+520_478-524dup	ENSP00000318351.5:n.477+520_478-524dup
ENST00000356489.9:c.477+520_478-524dup	ENSP00000348880.5:n.477+520_478-524dup
ENST00000369760.8:c.477+520_478-524dup	ENSP00000358775.4:n.477+520_478-524dup
NM_000056.3:c.477+520_478-524dup	NP_000047.1:n.477+520_478-524dup
NM_183050.2:c.477+520_478-524dup	NP_898871.1:n.477+520_478-524dup
XM_005248756.3:c.477+520_478-524dup	XP_005248813.1:n.477+520_478-524dup
XM_006715542.2:c.267+520_268-524dup	XP_006715605.1:n.267+520_268-524dup
XM_011536023.1:c.477+520_478-524dup	XP_011534325.1:n.477+520_478-524dup
XM_011536024.1:c.477+520_478-524dup	XP_011534326.1:n.477+520_478-524dup
XM_011536025.1:c.477+520_478-524dup	XP_011534327.1:n.477+520_478-524dup
XM_011536026.1:c.267+520_268-524dup	XP_011534328.1:n.267+520_268-524dup
XM_011536027.1:c.477+520_478-524dup	XP_011534329.1:n.477+520_478-524dup
NM_000056.4:c.477+520_478-524dup	NP_000047.1:n.477+520_478-524dup
NM_001318975.1:c.267+520_268-524dup	NP_001305904.1:n.267+520_268-524dup
NM_183050.3:c.477+520_478-524dup	NP_898871.1:n.477+520_478-524dup
NR_134945.1:n.561+520_562-524dup
XM_005248756.5:c.477+520_478-524dup	XP_005248813.1:n.477+520_478-524dup
XM_011536023.3:c.477+520_478-524dup	XP_011534325.1:n.477+520_478-524dup
XM_011536024.3:c.477+520_478-524dup	XP_011534326.1:n.477+520_478-524dup
XM_011536025.3:c.477+520_478-524dup	XP_011534327.1:n.477+520_478-524dup
XR_001743546.2:n.507+520_508-524dup
XR_001743547.2:n.507+520_508-524dup
XR_001743548.2:n.507+520_508-524dup
XR_001743549.2:n.507+520_508-524dup
XR_002956292.1:n.507+520_508-524dup
NM_183050.4:c.477+520_478-524dup MANE Select	NP_898871.1:n.477+520_478-524dup
NR_134945.2:n.500+520_501-524dup
NM_000056.5:c.477+520_478-524dup	NP_000047.1:n.477+520_478-524dup