Canonical Allele Identifier: CA942596712

Gene: BUD13

Linked Data

• dbSNP Id: rs1940309310
• gnomAD v3: 11-116755671-CTAT-C
• gnomAD v4: 11-116755671-CTAT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116755677_116755679del , CM000673.2:g.116755677_116755679del	GRCh38
NC_000011.9:g.116626393_116626395del , CM000673.1:g.116626393_116626395del	GRCh37
NC_000011.8:g.116131603_116131605del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260210.5:c.1766+1472_1766+1474del MANE Select	ENSP00000260210.3:n.1766+1472_1766+1474del
ENST00000260210.4:c.1766+1472_1766+1474del	ENSP00000260210.3:n.1766+1472_1766+1474del
ENST00000375445.7:c.1364+1472_1364+1474del	ENSP00000364594.3:n.1364+1472_1364+1474del
ENST00000419189.1:c.541+1472_541+1474del
NM_001159736.1:c.1364+1472_1364+1474del	NP_001153208.1:n.1364+1472_1364+1474del
NM_032725.3:c.1766+1472_1766+1474del	NP_116114.1:n.1766+1472_1766+1474del
XM_011543035.1:c.1667+1472_1667+1474del	XP_011541337.1:n.1667+1472_1667+1474del
XM_011543035.2:c.1667+1472_1667+1474del	XP_011541337.1:n.1667+1472_1667+1474del
NM_032725.4:c.1766+1472_1766+1474del MANE Select	NP_116114.1:n.1766+1472_1766+1474del
NM_001159736.2:c.1364+1472_1364+1474del	NP_001153208.1:n.1364+1472_1364+1474del