Canonical Allele Identifier: CA1640937317

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168281_80168282delinsCA , CM000668.2:g.80168281_80168282delinsCA	GRCh38
NC_000006.11:g.80877998_80877999delinsCA , CM000668.1:g.80877998_80877999delinsCA	GRCh37
NC_000006.10:g.80934717_80934718delinsCA	NCBI36
NG_009775.1:g.66655_66656delinsCA
NG_009775.2:g.66655_66656delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.477+470_477+471delinsCA MANE Select	ENSP00000318351.5:n.477+470_477+471delinsCA
ENST00000320393.8:c.477+470_477+471delinsCA	ENSP00000318351.5:n.477+470_477+471delinsCA
ENST00000356489.9:c.477+470_477+471delinsCA	ENSP00000348880.5:n.477+470_477+471delinsCA
ENST00000369760.8:c.477+470_477+471delinsCA	ENSP00000358775.4:n.477+470_477+471delinsCA
NM_000056.3:c.477+470_477+471delinsCA	NP_000047.1:n.477+470_477+471delinsCA
NM_183050.2:c.477+470_477+471delinsCA	NP_898871.1:n.477+470_477+471delinsCA
XM_005248756.3:c.477+470_477+471delinsCA	XP_005248813.1:n.477+470_477+471delinsCA
XM_006715542.2:c.267+470_267+471delinsCA	XP_006715605.1:n.267+470_267+471delinsCA
XM_011536023.1:c.477+470_477+471delinsCA	XP_011534325.1:n.477+470_477+471delinsCA
XM_011536024.1:c.477+470_477+471delinsCA	XP_011534326.1:n.477+470_477+471delinsCA
XM_011536025.1:c.477+470_477+471delinsCA	XP_011534327.1:n.477+470_477+471delinsCA
XM_011536026.1:c.267+470_267+471delinsCA	XP_011534328.1:n.267+470_267+471delinsCA
XM_011536027.1:c.477+470_477+471delinsCA	XP_011534329.1:n.477+470_477+471delinsCA
NM_000056.4:c.477+470_477+471delinsCA	NP_000047.1:n.477+470_477+471delinsCA
NM_001318975.1:c.267+470_267+471delinsCA	NP_001305904.1:n.267+470_267+471delinsCA
NM_183050.3:c.477+470_477+471delinsCA	NP_898871.1:n.477+470_477+471delinsCA
NR_134945.1:n.561+470_561+471delinsCA
XM_005248756.5:c.477+470_477+471delinsCA	XP_005248813.1:n.477+470_477+471delinsCA
XM_011536023.3:c.477+470_477+471delinsCA	XP_011534325.1:n.477+470_477+471delinsCA
XM_011536024.3:c.477+470_477+471delinsCA	XP_011534326.1:n.477+470_477+471delinsCA
XM_011536025.3:c.477+470_477+471delinsCA	XP_011534327.1:n.477+470_477+471delinsCA
XR_001743546.2:n.507+470_507+471delinsCA
XR_001743547.2:n.507+470_507+471delinsCA
XR_001743548.2:n.507+470_507+471delinsCA
XR_001743549.2:n.507+470_507+471delinsCA
XR_002956292.1:n.507+470_507+471delinsCA
NM_183050.4:c.477+470_477+471delinsCA MANE Select	NP_898871.1:n.477+470_477+471delinsCA
NR_134945.2:n.500+470_500+471delinsCA
NM_000056.5:c.477+470_477+471delinsCA	NP_000047.1:n.477+470_477+471delinsCA