Canonical Allele Identifier: CA913111577

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.80816378_80816413del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106661_80106696del , CM000668.2:g.80106661_80106696del	GRCh38
NC_000006.11:g.80816378_80816413del , CM000668.1:g.80816378_80816413del	GRCh37
NC_000006.10:g.80873097_80873132del	NCBI36
NG_009775.1:g.5035_5070del
NG_009775.2:g.5035_5070del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.8:c.-33_3del
ENST00000356489.9:c.-33_3del
ENST00000369760.8:c.-33_3del
NM_000056.3:c.-33_3del
NM_183050.2:c.-33_3del
XM_005248756.3:c.-33_3del
XM_006715542.2:c.-37_-15+13del
XM_011536023.1:c.-33_3del
XM_011536024.1:c.-33_3del
XM_011536025.1:c.-33_3del
XM_011536027.1:c.-33_3del
NM_000056.4:c.-33_3del
NM_001318975.1:c.-37_-15+13del
NM_183050.3:c.-33_3del
NR_134945.1:n.52_87del