Canonical Allele Identifier: CA568600938

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1562049281
• gnomAD v2: 6-80816583-C-CA
• gnomAD v4: 6-80106866-C-CA
• MyVariant Identifiers: chr6:g.80816583_80816584insA (hg19) ; chr6:g.80106866_80106867insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106867dup , CM000668.2:g.80106867dup	GRCh38
NC_000006.11:g.80816584dup , CM000668.1:g.80816584dup	GRCh37
NC_000006.10:g.80873303dup	NCBI36
NG_009775.1:g.5241dup
NG_009775.2:g.5241dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.174dup MANE Select	ENSP00000318351.5:p.Asp59ArgfsTer25
ENST00000320393.8:c.174dup	ENSP00000318351.5:p.Asp59ArgfsTer25
ENST00000356489.9:c.174dup	ENSP00000348880.5:p.Asp59ArgfsTer25
ENST00000369760.8:c.174dup	ENSP00000358775.4:p.Asp59ArgfsTer25
NM_000056.3:c.174dup	NP_000047.1:p.Asp59ArgfsTer25
NM_183050.2:c.174dup	NP_898871.1:p.Asp59ArgfsTer25
XM_005248756.3:c.174dup	XP_005248813.1:p.Asp59ArgfsTer25
XM_006715542.2:c.-15+184dup	XP_006715605.1:n.-15+184dup
XM_011536023.1:c.174dup	XP_011534325.1:p.Asp59ArgfsTer25
XM_011536024.1:c.174dup	XP_011534326.1:p.Asp59ArgfsTer25
XM_011536025.1:c.174dup	XP_011534327.1:p.Asp59ArgfsTer25
XM_011536027.1:c.174dup	XP_011534329.1:p.Asp59ArgfsTer25
NM_000056.4:c.174dup	NP_000047.1:p.Asp59ArgfsTer25
NM_001318975.1:c.-15+184dup	NP_001305904.1:n.-15+184dup
NM_183050.3:c.174dup	NP_898871.1:p.Asp59ArgfsTer25
NR_134945.1:n.258dup
XM_005248756.5:c.174dup	XP_005248813.1:p.Asp59ArgfsTer25
XM_011536023.3:c.174dup	XP_011534325.1:p.Asp59ArgfsTer25
XM_011536024.3:c.174dup	XP_011534326.1:p.Asp59ArgfsTer25
XM_011536025.3:c.174dup	XP_011534327.1:p.Asp59ArgfsTer25
XR_001743546.2:n.204dup
XR_001743547.2:n.204dup
XR_001743548.2:n.204dup
XR_001743549.2:n.204dup
XR_002956292.1:n.204dup
NM_183050.4:c.174dup MANE Select	NP_898871.1:p.Asp59ArgfsTer25
NR_134945.2:n.197dup
NM_000056.5:c.174dup	NP_000047.1:p.Asp59ArgfsTer25