Canonical Allele Identifier: CA2616107589

Gene: BUD13

Linked Data

• gnomAD v4: 11-116748282-C-CCGGGG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116748282_116748283insCGGGG , CM000673.2:g.116748282_116748283insCGGGG	GRCh38
NC_000011.9:g.116618998_116618999insCGGGG , CM000673.1:g.116618998_116618999insCGGGG	GRCh37
NC_000011.8:g.116124208_116124209insCGGGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.*199_*200insCCCCG MANE Select	ENSP00000260210.3:n.*199_*200insCCCCG
ENST00000260210.4:c.*199_*200insCCCCG	ENSP00000260210.3:n.*199_*200insCCCCG
ENST00000375445.7:c.*199_*200insCCCCG	ENSP00000364594.3:n.*199_*200insCCCCG
ENST00000419189.1:c.834_835insCCCCG
NM_001159736.1:c.*199_*200insCCCCG	NP_001153208.1:n.*199_*200insCCCCG
NM_032725.3:c.*199_*200insCCCCG	NP_116114.1:n.*199_*200insCCCCG
XM_011543035.1:c.*199_*200insCCCCG	XP_011541337.1:n.*199_*200insCCCCG
XM_011543035.2:c.*199_*200insCCCCG	XP_011541337.1:n.*199_*200insCCCCG
NM_032725.4:c.*199_*200insCCCCG MANE Select	NP_116114.1:n.*199_*200insCCCCG
NM_001159736.2:c.*199_*200insCCCCG	NP_001153208.1:n.*199_*200insCCCCG