Canonical Allele Identifier: CA568398882

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1467662033
• gnomAD v2: 6-80880989-G-GT
• gnomAD v4: 6-80171272-G-GT
• MyVariant Identifiers: chr6:g.80880989_80880990insT (hg19) ; chr6:g.80171272_80171273insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171277dup , CM000668.2:g.80171277dup	GRCh38
NC_000006.11:g.80880994dup , CM000668.1:g.80880994dup	GRCh37
NC_000006.10:g.80937713dup	NCBI36
NG_009775.1:g.69651dup
NG_009775.2:g.69651dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.634-5dup MANE Select	ENSP00000318351.5:n.634-5dup
ENST00000320393.8:c.634-5dup	ENSP00000318351.5:n.634-5dup
ENST00000356489.9:c.634-5dup	ENSP00000348880.5:n.634-5dup
NM_000056.3:c.634-5dup	NP_000047.1:n.634-5dup
NM_183050.2:c.634-5dup	NP_898871.1:n.634-5dup
XM_005248756.3:c.634-5dup	XP_005248813.1:n.634-5dup
XM_006715542.2:c.424-5dup	XP_006715605.1:n.424-5dup
XM_011536023.1:c.634-5dup	XP_011534325.1:n.634-5dup
XM_011536024.1:c.634-5dup	XP_011534326.1:n.634-5dup
XM_011536025.1:c.634-5dup	XP_011534327.1:n.634-5dup
XM_011536026.1:c.424-5dup	XP_011534328.1:n.424-5dup
NM_000056.4:c.634-5dup	NP_000047.1:n.634-5dup
NM_001318975.1:c.424-5dup	NP_001305904.1:n.424-5dup
NM_183050.3:c.634-5dup	NP_898871.1:n.634-5dup
NR_134945.1:n.812-5dup
XM_005248756.5:c.634-5dup	XP_005248813.1:n.634-5dup
XM_011536023.3:c.634-5dup	XP_011534325.1:n.634-5dup
XM_011536024.3:c.634-5dup	XP_011534326.1:n.634-5dup
XM_011536025.3:c.634-5dup	XP_011534327.1:n.634-5dup
XR_001743546.2:n.664-5dup
XR_001743547.2:n.664-5dup
XR_001743548.2:n.664-5dup
XR_001743549.2:n.664-5dup
XR_002956292.1:n.664-5dup
NM_183050.4:c.634-5dup MANE Select	NP_898871.1:n.634-5dup
NR_134945.2:n.751-5dup
NM_000056.5:c.634-5dup	NP_000047.1:n.634-5dup