Canonical Allele Identifier: CA672153157

Gene: BUD13

Linked Data

• dbSNP Id: rs1307641251
• gnomAD v3: 11-116755912-A-ATT
• gnomAD v4: 11-116755912-A-ATT
• MyVariant Identifiers: chr11:g.116626628_116626629insTT (hg19) ; chr11:g.116755912_116755913insTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116755916_116755917dup , CM000673.2:g.116755916_116755917dup	GRCh38
NC_000011.9:g.116626632_116626633dup , CM000673.1:g.116626632_116626633dup	GRCh37
NC_000011.8:g.116131842_116131843dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1766+1232_1766+1233dup MANE Select	ENSP00000260210.3:n.1766+1232_1766+1233dup
ENST00000260210.4:c.1766+1232_1766+1233dup	ENSP00000260210.3:n.1766+1232_1766+1233dup
ENST00000375445.7:c.1364+1232_1364+1233dup	ENSP00000364594.3:n.1364+1232_1364+1233dup
ENST00000419189.1:c.541+1232_541+1233dup
NM_001159736.1:c.1364+1232_1364+1233dup	NP_001153208.1:n.1364+1232_1364+1233dup
NM_032725.3:c.1766+1232_1766+1233dup	NP_116114.1:n.1766+1232_1766+1233dup
XM_011543035.1:c.1667+1232_1667+1233dup	XP_011541337.1:n.1667+1232_1667+1233dup
XM_011543035.2:c.1667+1232_1667+1233dup	XP_011541337.1:n.1667+1232_1667+1233dup
NM_032725.4:c.1766+1232_1766+1233dup MANE Select	NP_116114.1:n.1766+1232_1766+1233dup
NM_001159736.2:c.1364+1232_1364+1233dup	NP_001153208.1:n.1364+1232_1364+1233dup