Canonical Allele Identifier: CA2573141307

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 1418173
• ClinVar RCV Id: RCV001951978
• dbSNP Id: rs2127698743

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106718_80106728dup , CM000668.2:g.80106718_80106728dup	GRCh38
NC_000006.11:g.80816435_80816445dup , CM000668.1:g.80816435_80816445dup	GRCh37
NC_000006.10:g.80873154_80873164dup	NCBI36
NG_009775.1:g.5092_5102dup
NG_009775.2:g.5092_5102dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.25_35dup MANE Select	ENSP00000318351.5:p.Arg13AlafsTer?
ENST00000320393.8:c.25_35dup	ENSP00000318351.5:p.Arg13AlafsTer?
ENST00000356489.9:c.25_35dup	ENSP00000348880.5:p.Arg13AlafsTer?
ENST00000369760.8:c.25_35dup	ENSP00000358775.4:p.Arg13AlafsTer?
NM_000056.3:c.25_35dup	NP_000047.1:p.Arg13AlafsTer?
NM_183050.2:c.25_35dup	NP_898871.1:p.Arg13AlafsTer?
XM_005248756.3:c.25_35dup	XP_005248813.1:p.Arg13AlafsTer?
XM_006715542.2:c.-15+35_-15+45dup	XP_006715605.1:n.-15+35_-15+45dup
XM_011536023.1:c.25_35dup	XP_011534325.1:p.Arg13AlafsTer?
XM_011536024.1:c.25_35dup	XP_011534326.1:p.Arg13AlafsTer?
XM_011536025.1:c.25_35dup	XP_011534327.1:p.Arg13AlafsTer?
XM_011536027.1:c.25_35dup	XP_011534329.1:p.Arg13AlafsTer?
NM_000056.4:c.25_35dup	NP_000047.1:p.Arg13AlafsTer?
NM_001318975.1:c.-15+35_-15+45dup	NP_001305904.1:n.-15+35_-15+45dup
NM_183050.3:c.25_35dup	NP_898871.1:p.Arg13AlafsTer?
NR_134945.1:n.109_119dup
XM_005248756.5:c.25_35dup	XP_005248813.1:p.Arg13AlafsTer?
XM_011536023.3:c.25_35dup	XP_011534325.1:p.Arg13AlafsTer?
XM_011536024.3:c.25_35dup	XP_011534326.1:p.Arg13AlafsTer?
XM_011536025.3:c.25_35dup	XP_011534327.1:p.Arg13AlafsTer?
XR_001743546.2:n.55_65dup
XR_001743547.2:n.55_65dup
XR_001743548.2:n.55_65dup
XR_001743549.2:n.55_65dup
XR_002956292.1:n.55_65dup
NM_183050.4:c.25_35dup MANE Select	NP_898871.1:p.Arg13AlafsTer?
NR_134945.2:n.48_58dup
NM_000056.5:c.25_35dup	NP_000047.1:p.Arg13AlafsTer?