Canonical Allele Identifier: CA2600248064

Gene: BCKDHB

Linked Data

• gnomAD v3: 6-80106616-GA-G
• gnomAD v4: 6-80106616-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106618del , CM000668.2:g.80106618del	GRCh38
NC_000006.11:g.80816335del , CM000668.1:g.80816335del	GRCh37
NC_000006.10:g.80873054del	NCBI36
NG_009775.1:g.4992del
NG_009775.2:g.4992del

Transcript Alleles

HGVS	Amino-acid Change
NM_000056.4:c.-76del	NP_000047.1:n.-76del
NM_001318975.1:c.-80del	NP_001305904.1:n.-80del
NM_183050.3:c.-76del	NP_898871.1:n.-76del
NR_134945.1:n.9del