Canonical Allele Identifier: CA2739273285

Gene: BCKDHB

Linked Data

• ClinVar Variation Id: 2798369
• ClinVar RCV Id: RCV003636366

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168905_80168910del , CM000668.2:g.80168905_80168910del	GRCh38
NC_000006.11:g.80878622_80878627del , CM000668.1:g.80878622_80878627del	GRCh37
NC_000006.10:g.80935341_80935346del	NCBI36
NG_009775.1:g.67279_67284del
NG_009775.2:g.67279_67284del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.508_513del MANE Select	ENSP00000318351.5:p.Arg170_Ser171del
ENST00000320393.8:c.508_513del	ENSP00000318351.5:p.Arg170_Ser171del
ENST00000356489.9:c.508_513del	ENSP00000348880.5:p.Arg170_Ser171del
ENST00000369760.8:c.508_513del	ENSP00000358775.4:p.Arg170_Ser171del
NM_000056.3:c.508_513del	NP_000047.1:p.Arg170_Ser171del
NM_183050.2:c.508_513del	NP_898871.1:p.Arg170_Ser171del
XM_005248756.3:c.508_513del	XP_005248813.1:p.Arg170_Ser171del
XM_006715542.2:c.298_303del	XP_006715605.1:p.Arg100_Ser101del
XM_011536023.1:c.508_513del	XP_011534325.1:p.Arg170_Ser171del
XM_011536024.1:c.508_513del	XP_011534326.1:p.Arg170_Ser171del
XM_011536025.1:c.508_513del	XP_011534327.1:p.Arg170_Ser171del
XM_011536026.1:c.298_303del	XP_011534328.1:p.Arg100_Ser101del
XM_011536027.1:c.508_513del	XP_011534329.1:p.Arg170_Ser171del
NM_000056.4:c.508_513del	NP_000047.1:p.Arg170_Ser171del
NM_001318975.1:c.298_303del	NP_001305904.1:p.Arg100_Ser101del
NM_183050.3:c.508_513del	NP_898871.1:p.Arg170_Ser171del
NR_134945.1:n.592_597del
XM_005248756.5:c.508_513del	XP_005248813.1:p.Arg170_Ser171del
XM_011536023.3:c.508_513del	XP_011534325.1:p.Arg170_Ser171del
XM_011536024.3:c.508_513del	XP_011534326.1:p.Arg170_Ser171del
XM_011536025.3:c.508_513del	XP_011534327.1:p.Arg170_Ser171del
XR_001743546.2:n.538_543del
XR_001743547.2:n.538_543del
XR_001743548.2:n.538_543del
XR_001743549.2:n.538_543del
XR_002956292.1:n.538_543del
NM_183050.4:c.508_513del MANE Select	NP_898871.1:p.Arg170_Ser171del
NR_134945.2:n.531_536del
NM_000056.5:c.508_513del	NP_000047.1:p.Arg170_Ser171del