Canonical Allele Identifier: CA142276881

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1015774815
• gnomAD v3: 6-80107124-TGA-T
• gnomAD v4: 6-80107124-TGA-T
• MyVariant Identifiers: chr6:g.80816842_80816843del (hg19) ; chr6:g.80107125_80107126del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80107128_80107129del , CM000668.2:g.80107128_80107129del	GRCh38
NC_000006.11:g.80816845_80816846del , CM000668.1:g.80816845_80816846del	GRCh37
NC_000006.10:g.80873564_80873565del	NCBI36
NG_009775.1:g.5502_5503del
NG_009775.2:g.5502_5503del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.196+239_196+240del MANE Select	ENSP00000318351.5:n.196+239_196+240del
ENST00000320393.8:c.196+239_196+240del	ENSP00000318351.5:n.196+239_196+240del
ENST00000356489.9:c.196+239_196+240del	ENSP00000348880.5:n.196+239_196+240del
ENST00000369760.8:c.196+239_196+240del	ENSP00000358775.4:n.196+239_196+240del
NM_000056.3:c.196+239_196+240del	NP_000047.1:n.196+239_196+240del
NM_183050.2:c.196+239_196+240del	NP_898871.1:n.196+239_196+240del
XM_005248756.3:c.196+239_196+240del	XP_005248813.1:n.196+239_196+240del
XM_006715542.2:c.-15+445_-15+446del	XP_006715605.1:n.-15+445_-15+446del
XM_011536023.1:c.196+239_196+240del	XP_011534325.1:n.196+239_196+240del
XM_011536024.1:c.196+239_196+240del	XP_011534326.1:n.196+239_196+240del
XM_011536025.1:c.196+239_196+240del	XP_011534327.1:n.196+239_196+240del
XM_011536027.1:c.196+239_196+240del	XP_011534329.1:n.196+239_196+240del
NM_000056.4:c.196+239_196+240del	NP_000047.1:n.196+239_196+240del
NM_001318975.1:c.-15+445_-15+446del	NP_001305904.1:n.-15+445_-15+446del
NM_183050.3:c.196+239_196+240del	NP_898871.1:n.196+239_196+240del
NR_134945.1:n.280+239_280+240del
XM_005248756.5:c.196+239_196+240del	XP_005248813.1:n.196+239_196+240del
XM_011536023.3:c.196+239_196+240del	XP_011534325.1:n.196+239_196+240del
XM_011536024.3:c.196+239_196+240del	XP_011534326.1:n.196+239_196+240del
XM_011536025.3:c.196+239_196+240del	XP_011534327.1:n.196+239_196+240del
XR_001743546.2:n.226+239_226+240del
XR_001743547.2:n.226+239_226+240del
XR_001743548.2:n.226+239_226+240del
XR_001743549.2:n.226+239_226+240del
XR_002956292.1:n.226+239_226+240del
NM_183050.4:c.196+239_196+240del MANE Select	NP_898871.1:n.196+239_196+240del
NR_134945.2:n.219+239_219+240del
NM_000056.5:c.196+239_196+240del	NP_000047.1:n.196+239_196+240del