Canonical Allele Identifier: CA2679497994

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80168810-A-AGGGAGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168810_80168811insGGGAGGGAGGG , CM000668.2:g.80168810_80168811insGGGAGGGAGGG	GRCh38
NC_000006.11:g.80878527_80878528insGGGAGGGAGGG , CM000668.1:g.80878527_80878528insGGGAGGGAGGG	GRCh37
NC_000006.10:g.80935246_80935247insGGGAGGGAGGG	NCBI36
NG_009775.1:g.67184_67185insGGGAGGGAGGG
NG_009775.2:g.67184_67185insGGGAGGGAGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-65_478-64insGGGAGGGAGGG MANE Select	ENSP00000318351.5:n.478-65_478-64insGGGAGGGAGGG
ENST00000320393.8:c.478-65_478-64insGGGAGGGAGGG	ENSP00000318351.5:n.478-65_478-64insGGGAGGGAGGG
ENST00000356489.9:c.478-65_478-64insGGGAGGGAGGG	ENSP00000348880.5:n.478-65_478-64insGGGAGGGAGGG
ENST00000369760.8:c.478-65_478-64insGGGAGGGAGGG	ENSP00000358775.4:n.478-65_478-64insGGGAGGGAGGG
NM_000056.3:c.478-65_478-64insGGGAGGGAGGG	NP_000047.1:n.478-65_478-64insGGGAGGGAGGG
NM_183050.2:c.478-65_478-64insGGGAGGGAGGG	NP_898871.1:n.478-65_478-64insGGGAGGGAGGG
XM_005248756.3:c.478-65_478-64insGGGAGGGAGGG	XP_005248813.1:n.478-65_478-64insGGGAGGGAGGG
XM_006715542.2:c.268-65_268-64insGGGAGGGAGGG	XP_006715605.1:n.268-65_268-64insGGGAGGGAGGG
XM_011536023.1:c.478-65_478-64insGGGAGGGAGGG	XP_011534325.1:n.478-65_478-64insGGGAGGGAGGG
XM_011536024.1:c.478-65_478-64insGGGAGGGAGGG	XP_011534326.1:n.478-65_478-64insGGGAGGGAGGG
XM_011536025.1:c.478-65_478-64insGGGAGGGAGGG	XP_011534327.1:n.478-65_478-64insGGGAGGGAGGG
XM_011536026.1:c.268-65_268-64insGGGAGGGAGGG	XP_011534328.1:n.268-65_268-64insGGGAGGGAGGG
XM_011536027.1:c.478-65_478-64insGGGAGGGAGGG	XP_011534329.1:n.478-65_478-64insGGGAGGGAGGG
NM_000056.4:c.478-65_478-64insGGGAGGGAGGG	NP_000047.1:n.478-65_478-64insGGGAGGGAGGG
NM_001318975.1:c.268-65_268-64insGGGAGGGAGGG	NP_001305904.1:n.268-65_268-64insGGGAGGGAGGG
NM_183050.3:c.478-65_478-64insGGGAGGGAGGG	NP_898871.1:n.478-65_478-64insGGGAGGGAGGG
NR_134945.1:n.562-65_562-64insGGGAGGGAGGG
XM_005248756.5:c.478-65_478-64insGGGAGGGAGGG	XP_005248813.1:n.478-65_478-64insGGGAGGGAGGG
XM_011536023.3:c.478-65_478-64insGGGAGGGAGGG	XP_011534325.1:n.478-65_478-64insGGGAGGGAGGG
XM_011536024.3:c.478-65_478-64insGGGAGGGAGGG	XP_011534326.1:n.478-65_478-64insGGGAGGGAGGG
XM_011536025.3:c.478-65_478-64insGGGAGGGAGGG	XP_011534327.1:n.478-65_478-64insGGGAGGGAGGG
XR_001743546.2:n.508-65_508-64insGGGAGGGAGGG
XR_001743547.2:n.508-65_508-64insGGGAGGGAGGG
XR_001743548.2:n.508-65_508-64insGGGAGGGAGGG
XR_001743549.2:n.508-65_508-64insGGGAGGGAGGG
XR_002956292.1:n.508-65_508-64insGGGAGGGAGGG
NM_183050.4:c.478-65_478-64insGGGAGGGAGGG MANE Select	NP_898871.1:n.478-65_478-64insGGGAGGGAGGG
NR_134945.2:n.501-65_501-64insGGGAGGGAGGG
NM_000056.5:c.478-65_478-64insGGGAGGGAGGG	NP_000047.1:n.478-65_478-64insGGGAGGGAGGG