Canonical Allele Identifier: CA1641009849

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1770044860
• gnomAD v4: 6-80343795-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343797del , CM000668.2:g.80343797del	GRCh38
NC_000006.11:g.81053514del , CM000668.1:g.81053514del	GRCh37
NC_000006.10:g.81110233del	NCBI36
NG_009775.1:g.242171del
NG_009775.2:g.242171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1172del MANE Select	ENSP00000318351.5:p.Asn391ThrfsTer11
ENST00000320393.8:c.1172del	ENSP00000318351.5:p.Asn391ThrfsTer11
ENST00000356489.9:c.1172del	ENSP00000348880.5:p.Asn391ThrfsTer13
ENST00000491328.1:n.227del
NM_000056.3:c.1172del	NP_000047.1:p.Asn391ThrfsTer13
NM_183050.2:c.1172del	NP_898871.1:p.Asn391ThrfsTer11
XM_006715542.2:c.962del	XP_006715605.1:p.Asn321ThrfsTer?
XM_011536024.1:c.*178del	XP_011534326.1:n.*178del
XM_011536026.1:c.962del	XP_011534328.1:p.Asn321ThrfsTer?
NM_000056.4:c.1172del	NP_000047.1:p.Asn391ThrfsTer13
NM_001318975.1:c.962del	NP_001305904.1:p.Asn321ThrfsTer11
NM_183050.3:c.1172del	NP_898871.1:p.Asn391ThrfsTer11
NR_134945.1:n.1350del
XM_011536024.3:c.*178del	XP_011534326.1:n.*178del
XR_001743546.2:n.1068+70576del
XR_001743547.2:n.1068+70576del
XR_001743548.2:n.1068+70576del
XR_001743549.2:n.1068+70576del
XR_002956292.1:n.1068+70576del
NM_183050.4:c.1172del MANE Select	NP_898871.1:p.Asn391ThrfsTer11
NR_134945.2:n.1289del
NM_000056.5:c.1172del	NP_000047.1:p.Asn391ThrfsTer13