Canonical Allele Identifier: CA1640937534

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168605_80168620delinsAAAGGAAGGAAGGAGG , CM000668.2:g.80168605_80168620delinsAAAGGAAGGAAGGAGG	GRCh38
NC_000006.11:g.80878322_80878337delinsAAAGGAAGGAAGGAGG , CM000668.1:g.80878322_80878337delinsAAAGGAAGGAAGGAGG	GRCh37
NC_000006.10:g.80935041_80935056delinsAAAGGAAGGAAGGAGG	NCBI36
NG_009775.1:g.66979_66994delinsAAAGGAAGGAAGGAGG
NG_009775.2:g.66979_66994delinsAAAGGAAGGAAGGAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-270_478-255delinsAAAGGAAGGAAGGAGG MANE Select	ENSP00000318351.5:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
ENST00000320393.8:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	ENSP00000318351.5:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
ENST00000356489.9:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	ENSP00000348880.5:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
ENST00000369760.8:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	ENSP00000358775.4:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
NM_000056.3:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	NP_000047.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
NM_183050.2:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	NP_898871.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_005248756.3:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_005248813.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_006715542.2:c.268-270_268-255delinsAAAGGAAGGAAGGAGG	XP_006715605.1:n.268-270_268-255delinsAAAGGAAGGAAGGAGG
XM_011536023.1:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_011534325.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_011536024.1:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_011534326.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_011536025.1:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_011534327.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_011536026.1:c.268-270_268-255delinsAAAGGAAGGAAGGAGG	XP_011534328.1:n.268-270_268-255delinsAAAGGAAGGAAGGAGG
XM_011536027.1:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_011534329.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
NM_000056.4:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	NP_000047.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
NM_001318975.1:c.268-270_268-255delinsAAAGGAAGGAAGGAGG	NP_001305904.1:n.268-270_268-255delinsAAAGGAAGGAAGGAGG
NM_183050.3:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	NP_898871.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
NR_134945.1:n.562-270_562-255delinsAAAGGAAGGAAGGAGG
XM_005248756.5:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_005248813.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_011536023.3:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_011534325.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_011536024.3:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_011534326.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XM_011536025.3:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	XP_011534327.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
XR_001743546.2:n.508-270_508-255delinsAAAGGAAGGAAGGAGG
XR_001743547.2:n.508-270_508-255delinsAAAGGAAGGAAGGAGG
XR_001743548.2:n.508-270_508-255delinsAAAGGAAGGAAGGAGG
XR_001743549.2:n.508-270_508-255delinsAAAGGAAGGAAGGAGG
XR_002956292.1:n.508-270_508-255delinsAAAGGAAGGAAGGAGG
NM_183050.4:c.478-270_478-255delinsAAAGGAAGGAAGGAGG MANE Select	NP_898871.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG
NR_134945.2:n.501-270_501-255delinsAAAGGAAGGAAGGAGG
NM_000056.5:c.478-270_478-255delinsAAAGGAAGGAAGGAGG	NP_000047.1:n.478-270_478-255delinsAAAGGAAGGAAGGAGG