Canonical Allele Identifier: CA1640938776

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80171062_80171064delinsCAG , CM000668.2:g.80171062_80171064delinsCAG	GRCh38
NC_000006.11:g.80880779_80880781delinsCAG , CM000668.1:g.80880779_80880781delinsCAG	GRCh37
NC_000006.10:g.80937498_80937500delinsCAG	NCBI36
NG_009775.1:g.69436_69438delinsCAG
NG_009775.2:g.69436_69438delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.634-220_634-218delinsCAG MANE Select	ENSP00000318351.5:n.634-220_634-218delinsCAG
ENST00000320393.8:c.634-220_634-218delinsCAG	ENSP00000318351.5:n.634-220_634-218delinsCAG
ENST00000356489.9:c.634-220_634-218delinsCAG	ENSP00000348880.5:n.634-220_634-218delinsCAG
NM_000056.3:c.634-220_634-218delinsCAG	NP_000047.1:n.634-220_634-218delinsCAG
NM_183050.2:c.634-220_634-218delinsCAG	NP_898871.1:n.634-220_634-218delinsCAG
XM_005248756.3:c.634-220_634-218delinsCAG	XP_005248813.1:n.634-220_634-218delinsCAG
XM_006715542.2:c.424-220_424-218delinsCAG	XP_006715605.1:n.424-220_424-218delinsCAG
XM_011536023.1:c.634-220_634-218delinsCAG	XP_011534325.1:n.634-220_634-218delinsCAG
XM_011536024.1:c.634-220_634-218delinsCAG	XP_011534326.1:n.634-220_634-218delinsCAG
XM_011536025.1:c.634-220_634-218delinsCAG	XP_011534327.1:n.634-220_634-218delinsCAG
XM_011536026.1:c.424-220_424-218delinsCAG	XP_011534328.1:n.424-220_424-218delinsCAG
NM_000056.4:c.634-220_634-218delinsCAG	NP_000047.1:n.634-220_634-218delinsCAG
NM_001318975.1:c.424-220_424-218delinsCAG	NP_001305904.1:n.424-220_424-218delinsCAG
NM_183050.3:c.634-220_634-218delinsCAG	NP_898871.1:n.634-220_634-218delinsCAG
NR_134945.1:n.812-220_812-218delinsCAG
XM_005248756.5:c.634-220_634-218delinsCAG	XP_005248813.1:n.634-220_634-218delinsCAG
XM_011536023.3:c.634-220_634-218delinsCAG	XP_011534325.1:n.634-220_634-218delinsCAG
XM_011536024.3:c.634-220_634-218delinsCAG	XP_011534326.1:n.634-220_634-218delinsCAG
XM_011536025.3:c.634-220_634-218delinsCAG	XP_011534327.1:n.634-220_634-218delinsCAG
XR_001743546.2:n.664-220_664-218delinsCAG
XR_001743547.2:n.664-220_664-218delinsCAG
XR_001743548.2:n.664-220_664-218delinsCAG
XR_001743549.2:n.664-220_664-218delinsCAG
XR_002956292.1:n.664-220_664-218delinsCAG
NM_183050.4:c.634-220_634-218delinsCAG MANE Select	NP_898871.1:n.634-220_634-218delinsCAG
NR_134945.2:n.751-220_751-218delinsCAG
NM_000056.5:c.634-220_634-218delinsCAG	NP_000047.1:n.634-220_634-218delinsCAG