Canonical Allele Identifier: CA1640937089

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80167727_80167728delinsAT , CM000668.2:g.80167727_80167728delinsAT	GRCh38
NC_000006.11:g.80877444_80877445delinsAT , CM000668.1:g.80877444_80877445delinsAT	GRCh37
NC_000006.10:g.80934163_80934164delinsAT	NCBI36
NG_009775.1:g.66101_66102delinsAT
NG_009775.2:g.66101_66102delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.393_394delinsAT MANE Select	ENSP00000318351.5:p.Gly131=
ENST00000320393.8:c.393_394delinsAT	ENSP00000318351.5:p.Gly131=
ENST00000356489.9:c.393_394delinsAT	ENSP00000348880.5:p.Gly131=
ENST00000369760.8:c.393_394delinsAT	ENSP00000358775.4:p.Gly131=
NM_000056.3:c.393_394delinsAT	NP_000047.1:p.Gly131=
NM_183050.2:c.393_394delinsAT	NP_898871.1:p.Gly131=
XM_005248756.3:c.393_394delinsAT	XP_005248813.1:p.Gly131=
XM_006715542.2:c.183_184delinsAT	XP_006715605.1:p.Gly61=
XM_011536023.1:c.393_394delinsAT	XP_011534325.1:p.Gly131=
XM_011536024.1:c.393_394delinsAT	XP_011534326.1:p.Gly131=
XM_011536025.1:c.393_394delinsAT	XP_011534327.1:p.Gly131=
XM_011536026.1:c.183_184delinsAT	XP_011534328.1:p.Gly61=
XM_011536027.1:c.393_394delinsAT	XP_011534329.1:p.Gly131=
NM_000056.4:c.393_394delinsAT	NP_000047.1:p.Gly131=
NM_001318975.1:c.183_184delinsAT	NP_001305904.1:p.Gly61=
NM_183050.3:c.393_394delinsAT	NP_898871.1:p.Gly131=
NR_134945.1:n.477_478delinsAT
XM_005248756.5:c.393_394delinsAT	XP_005248813.1:p.Gly131=
XM_011536023.3:c.393_394delinsAT	XP_011534325.1:p.Gly131=
XM_011536024.3:c.393_394delinsAT	XP_011534326.1:p.Gly131=
XM_011536025.3:c.393_394delinsAT	XP_011534327.1:p.Gly131=
XR_001743546.2:n.423_424delinsAT
XR_001743547.2:n.423_424delinsAT
XR_001743548.2:n.423_424delinsAT
XR_001743549.2:n.423_424delinsAT
XR_002956292.1:n.423_424delinsAT
NM_183050.4:c.393_394delinsAT MANE Select	NP_898871.1:p.Gly131=
NR_134945.2:n.416_417delinsAT
NM_000056.5:c.393_394delinsAT	NP_000047.1:p.Gly131=