Canonical Allele Identifier: CA229300221

Gene: BUD13

Linked Data

• dbSNP Id: rs368417075
• gnomAD v2: 11-116626530-GAATA-G
• gnomAD v3: 11-116755814-GAATA-G
• gnomAD v4: 11-116755814-GAATA-G
• MyVariant Identifiers: chr11:g.116626531_116626534del (hg19) ; chr11:g.116755815_116755818del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116755819_116755822del , CM000673.2:g.116755819_116755822del	GRCh38
NC_000011.9:g.116626535_116626538del , CM000673.1:g.116626535_116626538del	GRCh37
NC_000011.8:g.116131745_116131748del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1766+1328_1766+1331del MANE Select	ENSP00000260210.3:n.1766+1328_1766+1331del
ENST00000260210.4:c.1766+1328_1766+1331del	ENSP00000260210.3:n.1766+1328_1766+1331del
ENST00000375445.7:c.1364+1328_1364+1331del	ENSP00000364594.3:n.1364+1328_1364+1331del
ENST00000419189.1:c.541+1328_541+1331del
NM_001159736.1:c.1364+1328_1364+1331del	NP_001153208.1:n.1364+1328_1364+1331del
NM_032725.3:c.1766+1328_1766+1331del	NP_116114.1:n.1766+1328_1766+1331del
XM_011543035.1:c.1667+1328_1667+1331del	XP_011541337.1:n.1667+1328_1667+1331del
XM_011543035.2:c.1667+1328_1667+1331del	XP_011541337.1:n.1667+1328_1667+1331del
NM_032725.4:c.1766+1328_1766+1331del MANE Select	NP_116114.1:n.1766+1328_1766+1331del
NM_001159736.2:c.1364+1328_1364+1331del	NP_001153208.1:n.1364+1328_1364+1331del