Canonical Allele Identifier: CA1641009834

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1770044168
• gnomAD v4: 6-80343787-AAAATGATC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343790_80343797del , CM000668.2:g.80343790_80343797del	GRCh38
NC_000006.11:g.81053507_81053514del , CM000668.1:g.81053507_81053514del	GRCh37
NC_000006.10:g.81110226_81110233del	NCBI36
NG_009775.1:g.242164_242171del
NG_009775.2:g.242164_242171del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1165_1172del MANE Select	ENSP00000318351.5:p.Met389LeufsTer5
ENST00000320393.8:c.1165_1172del	ENSP00000318351.5:p.Met389LeufsTer5
ENST00000356489.9:c.1165_1172del	ENSP00000348880.5:p.Met389LeufsTer5
ENST00000491328.1:n.220_227del
NM_000056.3:c.1165_1172del	NP_000047.1:p.Met389LeufsTer5
NM_183050.2:c.1165_1172del	NP_898871.1:p.Met389LeufsTer5
XM_006715542.2:c.955_962del	XP_006715605.1:p.Met319LeufsTer5
XM_011536024.1:c.*171_*178del	XP_011534326.1:n.*171_*178del
XM_011536026.1:c.955_962del	XP_011534328.1:p.Met319LeufsTer5
NM_000056.4:c.1165_1172del	NP_000047.1:p.Met389LeufsTer5
NM_001318975.1:c.955_962del	NP_001305904.1:p.Met319LeufsTer5
NM_183050.3:c.1165_1172del	NP_898871.1:p.Met389LeufsTer5
NR_134945.1:n.1343_1350del
XM_011536024.3:c.*171_*178del	XP_011534326.1:n.*171_*178del
XR_001743546.2:n.1068+70569_1068+70576del
XR_001743547.2:n.1068+70569_1068+70576del
XR_001743548.2:n.1068+70569_1068+70576del
XR_001743549.2:n.1068+70569_1068+70576del
XR_002956292.1:n.1068+70569_1068+70576del
NM_183050.4:c.1165_1172del MANE Select	NP_898871.1:p.Met389LeufsTer5
NR_134945.2:n.1282_1289del
NM_000056.5:c.1165_1172del	NP_000047.1:p.Met389LeufsTer5