Canonical Allele Identifier: CA2679497890

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80168784-A-AGGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168787_80168788insGGGA , CM000668.2:g.80168787_80168788insGGGA	GRCh38
NC_000006.11:g.80878504_80878505insGGGA , CM000668.1:g.80878504_80878505insGGGA	GRCh37
NC_000006.10:g.80935223_80935224insGGGA	NCBI36
NG_009775.1:g.67161_67162insGGGA
NG_009775.2:g.67161_67162insGGGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-88_478-87insGGGA MANE Select	ENSP00000318351.5:n.478-88_478-87insGGGA
ENST00000320393.8:c.478-88_478-87insGGGA	ENSP00000318351.5:n.478-88_478-87insGGGA
ENST00000356489.9:c.478-88_478-87insGGGA	ENSP00000348880.5:n.478-88_478-87insGGGA
ENST00000369760.8:c.478-88_478-87insGGGA	ENSP00000358775.4:n.478-88_478-87insGGGA
NM_000056.3:c.478-88_478-87insGGGA	NP_000047.1:n.478-88_478-87insGGGA
NM_183050.2:c.478-88_478-87insGGGA	NP_898871.1:n.478-88_478-87insGGGA
XM_005248756.3:c.478-88_478-87insGGGA	XP_005248813.1:n.478-88_478-87insGGGA
XM_006715542.2:c.268-88_268-87insGGGA	XP_006715605.1:n.268-88_268-87insGGGA
XM_011536023.1:c.478-88_478-87insGGGA	XP_011534325.1:n.478-88_478-87insGGGA
XM_011536024.1:c.478-88_478-87insGGGA	XP_011534326.1:n.478-88_478-87insGGGA
XM_011536025.1:c.478-88_478-87insGGGA	XP_011534327.1:n.478-88_478-87insGGGA
XM_011536026.1:c.268-88_268-87insGGGA	XP_011534328.1:n.268-88_268-87insGGGA
XM_011536027.1:c.478-88_478-87insGGGA	XP_011534329.1:n.478-88_478-87insGGGA
NM_000056.4:c.478-88_478-87insGGGA	NP_000047.1:n.478-88_478-87insGGGA
NM_001318975.1:c.268-88_268-87insGGGA	NP_001305904.1:n.268-88_268-87insGGGA
NM_183050.3:c.478-88_478-87insGGGA	NP_898871.1:n.478-88_478-87insGGGA
NR_134945.1:n.562-88_562-87insGGGA
XM_005248756.5:c.478-88_478-87insGGGA	XP_005248813.1:n.478-88_478-87insGGGA
XM_011536023.3:c.478-88_478-87insGGGA	XP_011534325.1:n.478-88_478-87insGGGA
XM_011536024.3:c.478-88_478-87insGGGA	XP_011534326.1:n.478-88_478-87insGGGA
XM_011536025.3:c.478-88_478-87insGGGA	XP_011534327.1:n.478-88_478-87insGGGA
XR_001743546.2:n.508-88_508-87insGGGA
XR_001743547.2:n.508-88_508-87insGGGA
XR_001743548.2:n.508-88_508-87insGGGA
XR_001743549.2:n.508-88_508-87insGGGA
XR_002956292.1:n.508-88_508-87insGGGA
NM_183050.4:c.478-88_478-87insGGGA MANE Select	NP_898871.1:n.478-88_478-87insGGGA
NR_134945.2:n.501-88_501-87insGGGA
NM_000056.5:c.478-88_478-87insGGGA	NP_000047.1:n.478-88_478-87insGGGA