Canonical Allele Identifier: CA2679496932

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80106640-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106644del , CM000668.2:g.80106644del	GRCh38
NC_000006.11:g.80816361del , CM000668.1:g.80816361del	GRCh37
NC_000006.10:g.80873080del	NCBI36
NG_009775.1:g.5018del
NG_009775.2:g.5018del

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.3:c.-50del	NP_000047.1:n.-50del
NM_183050.2:c.-50del	NP_898871.1:n.-50del
NM_000056.4:c.-50del	NP_000047.1:n.-50del
NM_001318975.1:c.-54del	NP_001305904.1:n.-54del
NM_183050.3:c.-50del	NP_898871.1:n.-50del
NR_134945.1:n.35del