Canonical Allele Identifier: CA2573141309

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1672176
• ClinVar RCV Id: RCV002201552
• dbSNP Id: rs2127699136

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106837_80106838delinsAA , CM000668.2:g.80106837_80106838delinsAA	GRCh38
NC_000006.11:g.80816554_80816555delinsAA , CM000668.1:g.80816554_80816555delinsAA	GRCh37
NC_000006.10:g.80873273_80873274delinsAA	NCBI36
NG_009775.1:g.5211_5212delinsAA
NG_009775.2:g.5211_5212delinsAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.144_145delinsAA MANE Select	ENSP00000318351.5:p.Arg48=
ENST00000320393.8:c.144_145delinsAA	ENSP00000318351.5:p.Arg48=
ENST00000356489.9:c.144_145delinsAA	ENSP00000348880.5:p.Arg48=
ENST00000369760.8:c.144_145delinsAA	ENSP00000358775.4:p.Arg48=
NM_000056.3:c.144_145delinsAA	NP_000047.1:p.Arg48=
NM_183050.2:c.144_145delinsAA	NP_898871.1:p.Arg48=
XM_005248756.3:c.144_145delinsAA	XP_005248813.1:p.Arg48=
XM_006715542.2:c.-15+154_-15+155delinsAA	XP_006715605.1:n.-15+154_-15+155delinsAA
XM_011536023.1:c.144_145delinsAA	XP_011534325.1:p.Arg48=
XM_011536024.1:c.144_145delinsAA	XP_011534326.1:p.Arg48=
XM_011536025.1:c.144_145delinsAA	XP_011534327.1:p.Arg48=
XM_011536027.1:c.144_145delinsAA	XP_011534329.1:p.Arg48=
NM_000056.4:c.144_145delinsAA	NP_000047.1:p.Arg48=
NM_001318975.1:c.-15+154_-15+155delinsAA	NP_001305904.1:n.-15+154_-15+155delinsAA
NM_183050.3:c.144_145delinsAA	NP_898871.1:p.Arg48=
NR_134945.1:n.228_229delinsAA
XM_005248756.5:c.144_145delinsAA	XP_005248813.1:p.Arg48=
XM_011536023.3:c.144_145delinsAA	XP_011534325.1:p.Arg48=
XM_011536024.3:c.144_145delinsAA	XP_011534326.1:p.Arg48=
XM_011536025.3:c.144_145delinsAA	XP_011534327.1:p.Arg48=
XR_001743546.2:n.174_175delinsAA
XR_001743547.2:n.174_175delinsAA
XR_001743548.2:n.174_175delinsAA
XR_001743549.2:n.174_175delinsAA
XR_002956292.1:n.174_175delinsAA
NM_183050.4:c.144_145delinsAA MANE Select	NP_898871.1:p.Arg48=
NR_134945.2:n.167_168delinsAA
NM_000056.5:c.144_145delinsAA	NP_000047.1:p.Arg48=