Canonical Allele Identifier: CA1640937390
Gene: BCKDHB HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80168403_80168536delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA , CM000668.2:g.80168403_80168536delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA GRCh38
NC_000006.11:g.80878120_80878253delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA , CM000668.1:g.80878120_80878253delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA GRCh37
NC_000006.10:g.80934839_80934972delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA NCBI36
NG_009775.1:g.66777_66910delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
NG_009775.2:g.66777_66910delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA MANE Select ENSP00000318351.5:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGG...
ENST00000320393.8:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA ENSP00000318351.5:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGG...
ENST00000356489.9:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA ENSP00000348880.5:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGG...
ENST00000369760.8:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA ENSP00000358775.4:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGG...
NM_000056.3:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA NP_000047.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAA...
NM_183050.2:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA NP_898871.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAA...
XM_005248756.3:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_005248813.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_006715542.2:c.268-472_268-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_006715605.1:n.268-472_268-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536023.1:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534325.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536024.1:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534326.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536025.1:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534327.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536026.1:c.268-472_268-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534328.1:n.268-472_268-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536027.1:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534329.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
NM_000056.4:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA NP_000047.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAA...
NM_001318975.1:c.268-472_268-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA NP_001305904.1:n.268-472_268-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
NM_183050.3:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA NP_898871.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAA...
NR_134945.1:n.562-472_562-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
XM_005248756.5:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_005248813.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536023.3:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534325.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536024.3:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534326.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XM_011536025.3:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA XP_011534327.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAG...
XR_001743546.2:n.508-472_508-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
XR_001743547.2:n.508-472_508-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
XR_001743548.2:n.508-472_508-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
XR_001743549.2:n.508-472_508-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
XR_002956292.1:n.508-472_508-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
NM_183050.4:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA MANE Select NP_898871.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAA...
NR_134945.2:n.501-472_501-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA
NM_000056.5:c.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGAGAGGGAGGGAGGGAGGGAGGGAGGGAGTGATGGGATCCTGTCTCAAGAAAGAAAGGAAAGGAGGGAGGGAAAAGCTCATTGTGCTATGGGAAAGGAA NP_000047.1:n.478-472_478-339delinsGGGAAGGGAGGGAGGGAGGGAAGGAA...
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Search 100 bp 3'