Canonical Allele Identifier: CA2679497930

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80168791-A-AAGTAAGGGAGGGAGGGAGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168793_80168794insTAAGGGAGGGAGGGAGGGAG , CM000668.2:g.80168793_80168794insTAAGGGAGGGAGGGAGGGAG	GRCh38
NC_000006.11:g.80878510_80878511insTAAGGGAGGGAGGGAGGGAG , CM000668.1:g.80878510_80878511insTAAGGGAGGGAGGGAGGGAG	GRCh37
NC_000006.10:g.80935229_80935230insTAAGGGAGGGAGGGAGGGAG	NCBI36
NG_009775.1:g.67167_67168insTAAGGGAGGGAGGGAGGGAG
NG_009775.2:g.67167_67168insTAAGGGAGGGAGGGAGGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG MANE Select	ENSP00000318351.5:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
ENST00000320393.8:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	ENSP00000318351.5:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
ENST00000356489.9:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	ENSP00000348880.5:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
ENST00000369760.8:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	ENSP00000358775.4:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
NM_000056.3:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	NP_000047.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
NM_183050.2:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	NP_898871.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_005248756.3:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_005248813.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_006715542.2:c.268-82_268-81insTAAGGGAGGGAGGGAGGGAG	XP_006715605.1:n.268-82_268-81insTAAGGGAGGGAGGGAGGGAG
XM_011536023.1:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_011534325.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_011536024.1:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_011534326.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_011536025.1:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_011534327.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_011536026.1:c.268-82_268-81insTAAGGGAGGGAGGGAGGGAG	XP_011534328.1:n.268-82_268-81insTAAGGGAGGGAGGGAGGGAG
XM_011536027.1:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_011534329.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
NM_000056.4:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	NP_000047.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
NM_001318975.1:c.268-82_268-81insTAAGGGAGGGAGGGAGGGAG	NP_001305904.1:n.268-82_268-81insTAAGGGAGGGAGGGAGGGAG
NM_183050.3:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	NP_898871.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
NR_134945.1:n.562-82_562-81insTAAGGGAGGGAGGGAGGGAG
XM_005248756.5:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_005248813.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_011536023.3:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_011534325.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_011536024.3:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_011534326.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XM_011536025.3:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	XP_011534327.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
XR_001743546.2:n.508-82_508-81insTAAGGGAGGGAGGGAGGGAG
XR_001743547.2:n.508-82_508-81insTAAGGGAGGGAGGGAGGGAG
XR_001743548.2:n.508-82_508-81insTAAGGGAGGGAGGGAGGGAG
XR_001743549.2:n.508-82_508-81insTAAGGGAGGGAGGGAGGGAG
XR_002956292.1:n.508-82_508-81insTAAGGGAGGGAGGGAGGGAG
NM_183050.4:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG MANE Select	NP_898871.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG
NR_134945.2:n.501-82_501-81insTAAGGGAGGGAGGGAGGGAG
NM_000056.5:c.478-82_478-81insTAAGGGAGGGAGGGAGGGAG	NP_000047.1:n.478-82_478-81insTAAGGGAGGGAGGGAGGGAG