Canonical Allele Identifier: CA1640908688

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106789_80106790delinsGC , CM000668.2:g.80106789_80106790delinsGC	GRCh38
NC_000006.11:g.80816506_80816507delinsGC , CM000668.1:g.80816506_80816507delinsGC	GRCh37
NC_000006.10:g.80873225_80873226delinsGC	NCBI36
NG_009775.1:g.5163_5164delinsGC
NG_009775.2:g.5163_5164delinsGC

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.96_97delinsGC MANE Select	ENSP00000318351.5:p.Ala32=
ENST00000320393.8:c.96_97delinsGC	ENSP00000318351.5:p.Ala32=
ENST00000356489.9:c.96_97delinsGC	ENSP00000348880.5:p.Ala32=
ENST00000369760.8:c.96_97delinsGC	ENSP00000358775.4:p.Ala32=
NM_000056.3:c.96_97delinsGC	NP_000047.1:p.Ala32=
NM_183050.2:c.96_97delinsGC	NP_898871.1:p.Ala32=
XM_005248756.3:c.96_97delinsGC	XP_005248813.1:p.Ala32=
XM_006715542.2:c.-15+106_-15+107delinsGC	XP_006715605.1:n.-15+106_-15+107delinsGC
XM_011536023.1:c.96_97delinsGC	XP_011534325.1:p.Ala32=
XM_011536024.1:c.96_97delinsGC	XP_011534326.1:p.Ala32=
XM_011536025.1:c.96_97delinsGC	XP_011534327.1:p.Ala32=
XM_011536027.1:c.96_97delinsGC	XP_011534329.1:p.Ala32=
NM_000056.4:c.96_97delinsGC	NP_000047.1:p.Ala32=
NM_001318975.1:c.-15+106_-15+107delinsGC	NP_001305904.1:n.-15+106_-15+107delinsGC
NM_183050.3:c.96_97delinsGC	NP_898871.1:p.Ala32=
NR_134945.1:n.180_181delinsGC
XM_005248756.5:c.96_97delinsGC	XP_005248813.1:p.Ala32=
XM_011536023.3:c.96_97delinsGC	XP_011534325.1:p.Ala32=
XM_011536024.3:c.96_97delinsGC	XP_011534326.1:p.Ala32=
XM_011536025.3:c.96_97delinsGC	XP_011534327.1:p.Ala32=
XR_001743546.2:n.126_127delinsGC
XR_001743547.2:n.126_127delinsGC
XR_001743548.2:n.126_127delinsGC
XR_001743549.2:n.126_127delinsGC
XR_002956292.1:n.126_127delinsGC
NM_183050.4:c.96_97delinsGC MANE Select	NP_898871.1:p.Ala32=
NR_134945.2:n.119_120delinsGC
NM_000056.5:c.96_97delinsGC	NP_000047.1:p.Ala32=