Canonical Allele Identifier: CA142303330

Gene: BCKDHB

Linked Data

• dbSNP Id: rs34401446
• MyVariant Identifiers: chr6:g.81053463_81053464insG (hg19) ; chr6:g.80343746_80343747insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343746_80343747insG , CM000668.2:g.80343746_80343747insG	GRCh38
NC_000006.11:g.81053463_81053464insG , CM000668.1:g.81053463_81053464insG	GRCh37
NC_000006.10:g.81110182_81110183insG	NCBI36
NG_009775.1:g.242120_242121insG
NG_009775.2:g.242120_242121insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1121_1122insG MANE Select	ENSP00000318351.5:p.Phe374LeufsTer11
ENST00000320393.8:c.1121_1122insG	ENSP00000318351.5:p.Phe374LeufsTer11
ENST00000356489.9:c.1121_1122insG	ENSP00000348880.5:p.Phe374LeufsTer11
ENST00000491328.1:n.176_177insG
NM_000056.3:c.1121_1122insG	NP_000047.1:p.Phe374LeufsTer11
NM_183050.2:c.1121_1122insG	NP_898871.1:p.Phe374LeufsTer11
XM_006715542.2:c.911_912insG	XP_006715605.1:p.Phe304LeufsTer11
XM_011536024.1:c.*127_*128insG	XP_011534326.1:n.*127_*128insG
XM_011536026.1:c.911_912insG	XP_011534328.1:p.Phe304LeufsTer11
NM_000056.4:c.1121_1122insG	NP_000047.1:p.Phe374LeufsTer11
NM_001318975.1:c.911_912insG	NP_001305904.1:p.Phe304LeufsTer11
NM_183050.3:c.1121_1122insG	NP_898871.1:p.Phe374LeufsTer11
NR_134945.1:n.1299_1300insG
XM_011536024.3:c.*127_*128insG	XP_011534326.1:n.*127_*128insG
XR_001743546.2:n.1068+70525_1068+70526insG
XR_001743547.2:n.1068+70525_1068+70526insG
XR_001743548.2:n.1068+70525_1068+70526insG
XR_001743549.2:n.1068+70525_1068+70526insG
XR_002956292.1:n.1068+70525_1068+70526insG
NM_183050.4:c.1121_1122insG MANE Select	NP_898871.1:p.Phe374LeufsTer11
NR_134945.2:n.1238_1239insG
NM_000056.5:c.1121_1122insG	NP_000047.1:p.Phe374LeufsTer11