Canonical Allele Identifier: CA2516030290

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168455_80168456del , CM000668.2:g.80168455_80168456del	GRCh38
NC_000006.11:g.80878172_80878173del , CM000668.1:g.80878172_80878173del	GRCh37
NC_000006.10:g.80934891_80934892del	NCBI36
NG_009775.1:g.66829_66830del
NG_009775.2:g.66829_66830del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-420_478-419del MANE Select	ENSP00000318351.5:n.478-420_478-419del
ENST00000320393.8:c.478-420_478-419del	ENSP00000318351.5:n.478-420_478-419del
ENST00000356489.9:c.478-420_478-419del	ENSP00000348880.5:n.478-420_478-419del
ENST00000369760.8:c.478-420_478-419del	ENSP00000358775.4:n.478-420_478-419del
NM_000056.3:c.478-420_478-419del	NP_000047.1:n.478-420_478-419del
NM_183050.2:c.478-420_478-419del	NP_898871.1:n.478-420_478-419del
XM_005248756.3:c.478-420_478-419del	XP_005248813.1:n.478-420_478-419del
XM_006715542.2:c.268-420_268-419del	XP_006715605.1:n.268-420_268-419del
XM_011536023.1:c.478-420_478-419del	XP_011534325.1:n.478-420_478-419del
XM_011536024.1:c.478-420_478-419del	XP_011534326.1:n.478-420_478-419del
XM_011536025.1:c.478-420_478-419del	XP_011534327.1:n.478-420_478-419del
XM_011536026.1:c.268-420_268-419del	XP_011534328.1:n.268-420_268-419del
XM_011536027.1:c.478-420_478-419del	XP_011534329.1:n.478-420_478-419del
NM_000056.4:c.478-420_478-419del	NP_000047.1:n.478-420_478-419del
NM_001318975.1:c.268-420_268-419del	NP_001305904.1:n.268-420_268-419del
NM_183050.3:c.478-420_478-419del	NP_898871.1:n.478-420_478-419del
NR_134945.1:n.562-420_562-419del
XM_005248756.5:c.478-420_478-419del	XP_005248813.1:n.478-420_478-419del
XM_011536023.3:c.478-420_478-419del	XP_011534325.1:n.478-420_478-419del
XM_011536024.3:c.478-420_478-419del	XP_011534326.1:n.478-420_478-419del
XM_011536025.3:c.478-420_478-419del	XP_011534327.1:n.478-420_478-419del
XR_001743546.2:n.508-420_508-419del
XR_001743547.2:n.508-420_508-419del
XR_001743548.2:n.508-420_508-419del
XR_001743549.2:n.508-420_508-419del
XR_002956292.1:n.508-420_508-419del
NM_183050.4:c.478-420_478-419del MANE Select	NP_898871.1:n.478-420_478-419del
NR_134945.2:n.501-420_501-419del
NM_000056.5:c.478-420_478-419del	NP_000047.1:n.478-420_478-419del