Canonical Allele Identifier: CA1641009831

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80343787_80343795delinsAAAATGATC , CM000668.2:g.80343787_80343795delinsAAAATGATC	GRCh38
NC_000006.11:g.81053504_81053512delinsAAAATGATC , CM000668.1:g.81053504_81053512delinsAAAATGATC	GRCh37
NC_000006.10:g.81110223_81110231delinsAAAATGATC	NCBI36
NG_009775.1:g.242161_242169delinsAAAATGATC
NG_009775.2:g.242161_242169delinsAAAATGATC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.1162_1170delinsAAAATGATC MANE Select	ENSP00000318351.5:p.Lys388=
ENST00000320393.8:c.1162_1170delinsAAAATGATC	ENSP00000318351.5:p.Lys388=
ENST00000356489.9:c.1162_1170delinsAAAATGATC	ENSP00000348880.5:p.Lys388=
ENST00000491328.1:n.217_225delinsAAAATGATC
NM_000056.3:c.1162_1170delinsAAAATGATC	NP_000047.1:p.Lys388=
NM_183050.2:c.1162_1170delinsAAAATGATC	NP_898871.1:p.Lys388=
XM_006715542.2:c.952_960delinsAAAATGATC	XP_006715605.1:p.Lys318=
XM_011536024.1:c.*168_*176delinsAAAATGATC	XP_011534326.1:n.*168_*176delinsAAAATGATC
XM_011536026.1:c.952_960delinsAAAATGATC	XP_011534328.1:p.Lys318=
NM_000056.4:c.1162_1170delinsAAAATGATC	NP_000047.1:p.Lys388=
NM_001318975.1:c.952_960delinsAAAATGATC	NP_001305904.1:p.Lys318=
NM_183050.3:c.1162_1170delinsAAAATGATC	NP_898871.1:p.Lys388=
NR_134945.1:n.1340_1348delinsAAAATGATC
XM_011536024.3:c.*168_*176delinsAAAATGATC	XP_011534326.1:n.*168_*176delinsAAAATGATC
XR_001743546.2:n.1068+70566_1068+70574delinsAAAATGATC
XR_001743547.2:n.1068+70566_1068+70574delinsAAAATGATC
XR_001743548.2:n.1068+70566_1068+70574delinsAAAATGATC
XR_001743549.2:n.1068+70566_1068+70574delinsAAAATGATC
XR_002956292.1:n.1068+70566_1068+70574delinsAAAATGATC
NM_183050.4:c.1162_1170delinsAAAATGATC MANE Select	NP_898871.1:p.Lys388=
NR_134945.2:n.1279_1287delinsAAAATGATC
NM_000056.5:c.1162_1170delinsAAAATGATC	NP_000047.1:p.Lys388=