Canonical Allele Identifier: CA1640937656

Gene: BCKDHB

Linked Data

• dbSNP Id: rs1689051066

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168786_80168787insGAAGGAAGG , CM000668.2:g.80168786_80168787insGAAGGAAGG	GRCh38
NC_000006.11:g.80878503_80878504insGAAGGAAGG , CM000668.1:g.80878503_80878504insGAAGGAAGG	GRCh37
NC_000006.10:g.80935222_80935223insGAAGGAAGG	NCBI36
NG_009775.1:g.67160_67161insGAAGGAAGG
NG_009775.2:g.67160_67161insGAAGGAAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000320393.9:c.478-89_478-88insGAAGGAAGG MANE Select	ENSP00000318351.5:n.478-89_478-88insGAAGG...
ENST00000320393.8:c.478-89_478-88insGAAGGAAGG	ENSP00000318351.5:n.478-89_478-88insGAAGG...
ENST00000356489.9:c.478-89_478-88insGAAGGAAGG	ENSP00000348880.5:n.478-89_478-88insGAAGG...
ENST00000369760.8:c.478-89_478-88insGAAGGAAGG	ENSP00000358775.4:n.478-89_478-88insGAAGG...
NM_000056.3:c.478-89_478-88insGAAGGAAGG	NP_000047.1:n.478-89_478-88insGAAGGAAGG
NM_183050.2:c.478-89_478-88insGAAGGAAGG	NP_898871.1:n.478-89_478-88insGAAGGAAGG
XM_005248756.3:c.478-89_478-88insGAAGGAAGG	XP_005248813.1:n.478-89_478-88insGAAGGAAG...
XM_006715542.2:c.268-89_268-88insGAAGGAAGG	XP_006715605.1:n.268-89_268-88insGAAGGAAG...
XM_011536023.1:c.478-89_478-88insGAAGGAAGG	XP_011534325.1:n.478-89_478-88insGAAGGAAG...
XM_011536024.1:c.478-89_478-88insGAAGGAAGG	XP_011534326.1:n.478-89_478-88insGAAGGAAG...
XM_011536025.1:c.478-89_478-88insGAAGGAAGG	XP_011534327.1:n.478-89_478-88insGAAGGAAG...
XM_011536026.1:c.268-89_268-88insGAAGGAAGG	XP_011534328.1:n.268-89_268-88insGAAGGAAG...
XM_011536027.1:c.478-89_478-88insGAAGGAAGG	XP_011534329.1:n.478-89_478-88insGAAGGAAG...
NM_000056.4:c.478-89_478-88insGAAGGAAGG	NP_000047.1:n.478-89_478-88insGAAGGAAGG
NM_001318975.1:c.268-89_268-88insGAAGGAAGG	NP_001305904.1:n.268-89_268-88insGAAGGAAG...
NM_183050.3:c.478-89_478-88insGAAGGAAGG	NP_898871.1:n.478-89_478-88insGAAGGAAGG
NR_134945.1:n.562-89_562-88insGAAGGAAGG
XM_005248756.5:c.478-89_478-88insGAAGGAAGG	XP_005248813.1:n.478-89_478-88insGAAGGAAG...
XM_011536023.3:c.478-89_478-88insGAAGGAAGG	XP_011534325.1:n.478-89_478-88insGAAGGAAG...
XM_011536024.3:c.478-89_478-88insGAAGGAAGG	XP_011534326.1:n.478-89_478-88insGAAGGAAG...
XM_011536025.3:c.478-89_478-88insGAAGGAAGG	XP_011534327.1:n.478-89_478-88insGAAGGAAG...
XR_001743546.2:n.508-89_508-88insGAAGGAAGG
XR_001743547.2:n.508-89_508-88insGAAGGAAGG
XR_001743548.2:n.508-89_508-88insGAAGGAAGG
XR_001743549.2:n.508-89_508-88insGAAGGAAGG
XR_002956292.1:n.508-89_508-88insGAAGGAAGG
NM_183050.4:c.478-89_478-88insGAAGGAAGG MANE Select	NP_898871.1:n.478-89_478-88insGAAGGAAGG
NR_134945.2:n.501-89_501-88insGAAGGAAGG
NM_000056.5:c.478-89_478-88insGAAGGAAGG	NP_000047.1:n.478-89_478-88insGAAGGAAGG