Canonical Allele Identifier: CA2539393586

Gene: BCKDHB

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.80168675_80168676insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG , CM000668.2:g.80168675_80168676insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	GRCh38
NC_000006.11:g.80878392_80878393insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG , CM000668.1:g.80878392_80878393insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	GRCh37
NC_000006.10:g.80935111_80935112insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	NCBI36
NG_009775.1:g.67049_67050insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
NG_009775.2:g.67049_67050insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320393.9:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG MANE Select	ENSP00000318351.5:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAG...
ENST00000320393.8:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	ENSP00000318351.5:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAG...
ENST00000356489.9:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	ENSP00000348880.5:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAG...
ENST00000369760.8:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	ENSP00000358775.4:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAG...
NM_000056.3:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	NP_000047.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGA...
NM_183050.2:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	NP_898871.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGA...
XM_005248756.3:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_005248813.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_006715542.2:c.268-200_268-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_006715605.1:n.268-200_268-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536023.1:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534325.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536024.1:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534326.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536025.1:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534327.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536026.1:c.268-200_268-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534328.1:n.268-200_268-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536027.1:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534329.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
NM_000056.4:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	NP_000047.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGA...
NM_001318975.1:c.268-200_268-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	NP_001305904.1:n.268-200_268-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
NM_183050.3:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	NP_898871.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGA...
NR_134945.1:n.562-200_562-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
XM_005248756.5:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_005248813.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536023.3:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534325.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536024.3:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534326.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XM_011536025.3:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	XP_011534327.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGC...
XR_001743546.2:n.508-200_508-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
XR_001743547.2:n.508-200_508-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
XR_001743548.2:n.508-200_508-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
XR_001743549.2:n.508-200_508-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
XR_002956292.1:n.508-200_508-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
NM_183050.4:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG MANE Select	NP_898871.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGA...
NR_134945.2:n.501-200_501-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG
NM_000056.5:c.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGAAATATG	NP_000047.1:n.478-200_478-199insGAGAAATGTGTGTGTAGCAGTAGGGCTGA...