Canonical Allele Identifier: CA142283978

Gene: BCKDHB

Linked Data

• dbSNP Id: rs541040515
• gnomAD v2: 6-80878076-G-GAGAGA
• gnomAD v3: 6-80168359-G-GAGAGA
• gnomAD v4: 6-80168359-G-GAGAGA
• MyVariant Identifiers: chr6:g.80878076_80878077insAGAGA (hg19) ; chr6:g.80168359_80168360insAGAGA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168360_80168364dup , CM000668.2:g.80168360_80168364dup	GRCh38
NC_000006.11:g.80878077_80878081dup , CM000668.1:g.80878077_80878081dup	GRCh37
NC_000006.10:g.80934796_80934800dup	NCBI36
NG_009775.1:g.66734_66738dup
NG_009775.2:g.66734_66738dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-515_478-511dup MANE Select	ENSP00000318351.5:n.478-515_478-511dup
ENST00000320393.8:c.478-515_478-511dup	ENSP00000318351.5:n.478-515_478-511dup
ENST00000356489.9:c.478-515_478-511dup	ENSP00000348880.5:n.478-515_478-511dup
ENST00000369760.8:c.478-515_478-511dup	ENSP00000358775.4:n.478-515_478-511dup
NM_000056.3:c.478-515_478-511dup	NP_000047.1:n.478-515_478-511dup
NM_183050.2:c.478-515_478-511dup	NP_898871.1:n.478-515_478-511dup
XM_005248756.3:c.478-515_478-511dup	XP_005248813.1:n.478-515_478-511dup
XM_006715542.2:c.268-515_268-511dup	XP_006715605.1:n.268-515_268-511dup
XM_011536023.1:c.478-515_478-511dup	XP_011534325.1:n.478-515_478-511dup
XM_011536024.1:c.478-515_478-511dup	XP_011534326.1:n.478-515_478-511dup
XM_011536025.1:c.478-515_478-511dup	XP_011534327.1:n.478-515_478-511dup
XM_011536026.1:c.268-515_268-511dup	XP_011534328.1:n.268-515_268-511dup
XM_011536027.1:c.478-515_478-511dup	XP_011534329.1:n.478-515_478-511dup
NM_000056.4:c.478-515_478-511dup	NP_000047.1:n.478-515_478-511dup
NM_001318975.1:c.268-515_268-511dup	NP_001305904.1:n.268-515_268-511dup
NM_183050.3:c.478-515_478-511dup	NP_898871.1:n.478-515_478-511dup
NR_134945.1:n.562-515_562-511dup
XM_005248756.5:c.478-515_478-511dup	XP_005248813.1:n.478-515_478-511dup
XM_011536023.3:c.478-515_478-511dup	XP_011534325.1:n.478-515_478-511dup
XM_011536024.3:c.478-515_478-511dup	XP_011534326.1:n.478-515_478-511dup
XM_011536025.3:c.478-515_478-511dup	XP_011534327.1:n.478-515_478-511dup
XR_001743546.2:n.508-515_508-511dup
XR_001743547.2:n.508-515_508-511dup
XR_001743548.2:n.508-515_508-511dup
XR_001743549.2:n.508-515_508-511dup
XR_002956292.1:n.508-515_508-511dup
NM_183050.4:c.478-515_478-511dup MANE Select	NP_898871.1:n.478-515_478-511dup
NR_134945.2:n.501-515_501-511dup
NM_000056.5:c.478-515_478-511dup	NP_000047.1:n.478-515_478-511dup