Canonical Allele Identifier: CA1640937403
Gene: BCKDHB HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.80168409_80168439delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA , CM000668.2:g.80168409_80168439delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA GRCh38
NC_000006.11:g.80878126_80878156delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA , CM000668.1:g.80878126_80878156delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA GRCh37
NC_000006.10:g.80934845_80934875delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA NCBI36
NG_009775.1:g.66783_66813delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
NG_009775.2:g.66783_66813delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000320393.9:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA MANE Select ENSP00000318351.5:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAA...
ENST00000320393.8:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA ENSP00000318351.5:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAA...
ENST00000356489.9:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA ENSP00000348880.5:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAA...
ENST00000369760.8:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA ENSP00000358775.4:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAA...
NM_000056.3:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA NP_000047.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAG...
NM_183050.2:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA NP_898871.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAG...
XM_005248756.3:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_005248813.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_006715542.2:c.268-466_268-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_006715605.1:n.268-466_268-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536023.1:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534325.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536024.1:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534326.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536025.1:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534327.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536026.1:c.268-466_268-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534328.1:n.268-466_268-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536027.1:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534329.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
NM_000056.4:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA NP_000047.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAG...
NM_001318975.1:c.268-466_268-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA NP_001305904.1:n.268-466_268-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
NM_183050.3:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA NP_898871.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAG...
NR_134945.1:n.562-466_562-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
XM_005248756.5:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_005248813.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536023.3:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534325.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536024.3:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534326.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XM_011536025.3:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA XP_011534327.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAA...
XR_001743546.2:n.508-466_508-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
XR_001743547.2:n.508-466_508-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
XR_001743548.2:n.508-466_508-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
XR_001743549.2:n.508-466_508-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
XR_002956292.1:n.508-466_508-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
NM_183050.4:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA MANE Select NP_898871.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAG...
NR_134945.2:n.501-466_501-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA
NM_000056.5:c.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAGGAAGA NP_000047.1:n.478-466_478-436delinsGGAGGGAGGGAGGGAAGGAAGAAAAG...