Canonical Allele Identifier: CA828578801

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1330502779
• gnomAD v3: 6-80343848-CT-C
• gnomAD v4: 6-80343848-CT-C
• MyVariant Identifiers: chr6:g.81053566del (hg19) ; chr6:g.80343849del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343849del , CM000668.2:g.80343849del	GRCh38
NC_000006.11:g.81053566del , CM000668.1:g.81053566del	GRCh37
NC_000006.10:g.81110285del	NCBI36
NG_009775.1:g.242223del
NG_009775.2:g.242223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.*45del MANE Select	ENSP00000318351.5:n.*45del
ENST00000320393.8:c.*45del	ENSP00000318351.5:n.*45del
ENST00000356489.9:c.*8+37del	ENSP00000348880.5:n.*8+37del
ENST00000491328.1:n.242+37del
NM_000056.3:c.*8+37del	NP_000047.1:n.*8+37del
NM_183050.2:c.*45del	NP_898871.1:n.*45del
NM_000056.4:c.*8+37del	NP_000047.1:n.*8+37del
NM_001318975.1:c.*45del	NP_001305904.1:n.*45del
NM_183050.3:c.*45del	NP_898871.1:n.*45del
NR_134945.1:n.1402del
XM_011536024.3:c.*230del	XP_011534326.1:n.*230del
XR_001743546.2:n.1068+70628del
XR_001743547.2:n.1068+70628del
XR_001743548.2:n.1068+70628del
XR_001743549.2:n.1068+70628del
XR_002956292.1:n.1068+70628del
NM_183050.4:c.*45del MANE Select	NP_898871.1:n.*45del
NR_134945.2:n.1341del
NM_000056.5:c.*8+37del	NP_000047.1:n.*8+37del