Canonical Allele Identifier: CA2695206776

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168852_80168951del , CM000668.2:g.80168852_80168951del	GRCh38
NC_000006.11:g.80878569_80878668del , CM000668.1:g.80878569_80878668del	GRCh37
NC_000006.10:g.80935288_80935387del	NCBI36
NG_009775.1:g.67226_67325del
NG_009775.2:g.67226_67325del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-23_554del
ENST00000320393.8:c.478-23_554del
ENST00000356489.9:c.478-23_554del
ENST00000369760.8:c.478-23_554del
NM_000056.3:c.478-23_554del
NM_183050.2:c.478-23_554del
XM_005248756.3:c.478-23_554del
XM_006715542.2:c.268-23_344del
XM_011536023.1:c.478-23_554del
XM_011536024.1:c.478-23_554del
XM_011536025.1:c.478-23_554del
XM_011536026.1:c.268-23_344del
XM_011536027.1:c.478-23_554del
NM_000056.4:c.478-23_554del
NM_001318975.1:c.268-23_344del
NM_183050.3:c.478-23_554del
NR_134945.1:n.562-23_638del
XM_005248756.5:c.478-23_554del
XM_011536023.3:c.478-23_554del
XM_011536024.3:c.478-23_554del
XM_011536025.3:c.478-23_554del
XR_001743546.2:n.508-23_584del
XR_001743547.2:n.508-23_584del
XR_001743548.2:n.508-23_584del
XR_001743549.2:n.508-23_584del
XR_002956292.1:n.508-23_584del
NM_183050.4:c.478-23_554del
NR_134945.2:n.501-23_577del
NM_000056.5:c.478-23_554del