Canonical Allele Identifier: CA2679498025

Gene: BCKDHB

Linked Data

• gnomAD v4: 6-80168895-GTATCGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168903_80168908del , CM000668.2:g.80168903_80168908del	GRCh38
NC_000006.11:g.80878620_80878625del , CM000668.1:g.80878620_80878625del	GRCh37
NC_000006.10:g.80935339_80935344del	NCBI36
NG_009775.1:g.67277_67282del
NG_009775.2:g.67277_67282del

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.506_511del MANE Select	ENSP00000318351.5:p.Tyr169_Arg170del
ENST00000320393.8:c.506_511del	ENSP00000318351.5:p.Tyr169_Arg170del
ENST00000356489.9:c.506_511del	ENSP00000348880.5:p.Tyr169_Arg170del
ENST00000369760.8:c.506_511del	ENSP00000358775.4:p.Tyr169_Arg170del
NM_000056.3:c.506_511del	NP_000047.1:p.Tyr169_Arg170del
NM_183050.2:c.506_511del	NP_898871.1:p.Tyr169_Arg170del
XM_005248756.3:c.506_511del	XP_005248813.1:p.Tyr169_Arg170del
XM_006715542.2:c.296_301del	XP_006715605.1:p.Tyr99_Arg100del
XM_011536023.1:c.506_511del	XP_011534325.1:p.Tyr169_Arg170del
XM_011536024.1:c.506_511del	XP_011534326.1:p.Tyr169_Arg170del
XM_011536025.1:c.506_511del	XP_011534327.1:p.Tyr169_Arg170del
XM_011536026.1:c.296_301del	XP_011534328.1:p.Tyr99_Arg100del
XM_011536027.1:c.506_511del	XP_011534329.1:p.Tyr169_Arg170del
NM_000056.4:c.506_511del	NP_000047.1:p.Tyr169_Arg170del
NM_001318975.1:c.296_301del	NP_001305904.1:p.Tyr99_Arg100del
NM_183050.3:c.506_511del	NP_898871.1:p.Tyr169_Arg170del
NR_134945.1:n.590_595del
XM_005248756.5:c.506_511del	XP_005248813.1:p.Tyr169_Arg170del
XM_011536023.3:c.506_511del	XP_011534325.1:p.Tyr169_Arg170del
XM_011536024.3:c.506_511del	XP_011534326.1:p.Tyr169_Arg170del
XM_011536025.3:c.506_511del	XP_011534327.1:p.Tyr169_Arg170del
XR_001743546.2:n.536_541del
XR_001743547.2:n.536_541del
XR_001743548.2:n.536_541del
XR_001743549.2:n.536_541del
XR_002956292.1:n.536_541del
NM_183050.4:c.506_511del MANE Select	NP_898871.1:p.Tyr169_Arg170del
NR_134945.2:n.529_534del
NM_000056.5:c.506_511del	NP_000047.1:p.Tyr169_Arg170del