Canonical Allele Identifier: CA913111578

Gene: BCKDHB

Linked Data

• MyVariant Identifiers: chr6:g.80816412dup (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80106695dup , CM000668.2:g.80106695dup	GRCh38
NC_000006.11:g.80816412dup , CM000668.1:g.80816412dup	GRCh37
NC_000006.10:g.80873131dup	NCBI36
NG_009775.1:g.5069dup
NG_009775.2:g.5069dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.2dup MANE Select	ENSP00000318351.5:p.Met1IlefsTer20
ENST00000320393.8:c.2dup	ENSP00000318351.5:p.Met1IlefsTer20
ENST00000356489.9:c.2dup	ENSP00000348880.5:p.Met1IlefsTer20
ENST00000369760.8:c.2dup	ENSP00000358775.4:p.Met1IlefsTer20
NM_000056.3:c.2dup	NP_000047.1:p.Met1IlefsTer20
NM_183050.2:c.2dup	NP_898871.1:p.Met1IlefsTer20
XM_005248756.3:c.2dup	XP_005248813.1:p.Met1IlefsTer20
XM_006715542.2:c.-15+12dup	XP_006715605.1:n.-15+12dup
XM_011536023.1:c.2dup	XP_011534325.1:p.Met1IlefsTer20
XM_011536024.1:c.2dup	XP_011534326.1:p.Met1IlefsTer20
XM_011536025.1:c.2dup	XP_011534327.1:p.Met1IlefsTer20
XM_011536027.1:c.2dup	XP_011534329.1:p.Met1IlefsTer20
NM_000056.4:c.2dup	NP_000047.1:p.Met1IlefsTer20
NM_001318975.1:c.-15+12dup	NP_001305904.1:n.-15+12dup
NM_183050.3:c.2dup	NP_898871.1:p.Met1IlefsTer20
NR_134945.1:n.86dup
XM_005248756.5:c.2dup	XP_005248813.1:p.Met1IlefsTer20
XM_011536023.3:c.2dup	XP_011534325.1:p.Met1IlefsTer20
XM_011536024.3:c.2dup	XP_011534326.1:p.Met1IlefsTer20
XM_011536025.3:c.2dup	XP_011534327.1:p.Met1IlefsTer20
XR_001743546.2:n.32dup
XR_001743547.2:n.32dup
XR_001743548.2:n.32dup
XR_001743549.2:n.32dup
XR_002956292.1:n.32dup
NM_183050.4:c.2dup MANE Select	NP_898871.1:p.Met1IlefsTer20
NR_134945.2:n.25dup
NM_000056.5:c.2dup	NP_000047.1:p.Met1IlefsTer20