Canonical Allele Identifier: CA2616107699
Gene: BUD13 HGNC NCBI

Linked Data

gnomAD v4: 11-116748441-C-CCCACTACCACAGCCCAG
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.116748446_116748462dup , CM000673.2:g.116748446_116748462dup GRCh38
NC_000011.9:g.116619162_116619178dup , CM000673.1:g.116619162_116619178dup GRCh37
NC_000011.8:g.116124372_116124388dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000260210.5:c.*24_*40dup MANE Select ENSP00000260210.3:n.*24_*40dup
ENST00000260210.4:c.*24_*40dup ENSP00000260210.3:n.*24_*40dup
ENST00000375445.7:c.*24_*40dup ENSP00000364594.3:n.*24_*40dup
ENST00000419189.1:c.659_675dup
NM_001159736.1:c.*24_*40dup NP_001153208.1:n.*24_*40dup
NM_032725.3:c.*24_*40dup NP_116114.1:n.*24_*40dup
XM_011543035.1:c.*24_*40dup XP_011541337.1:n.*24_*40dup
XM_011543035.2:c.*24_*40dup XP_011541337.1:n.*24_*40dup
NM_032725.4:c.*24_*40dup MANE Select NP_116114.1:n.*24_*40dup
NM_001159736.2:c.*24_*40dup NP_001153208.1:n.*24_*40dup
Search 100 bp 5'
Search 100 bp 3'