Canonical Allele Identifier: CA2688070069

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99819408-CTAGAGAAGAATATGATCCTTCAGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819410_99819433del , CM000670.2:g.99819410_99819433del	GRCh38
NC_000008.10:g.100831638_100831661del , CM000670.1:g.100831638_100831661del	GRCh37
NC_000008.9:g.100900814_100900837del	NCBI36
NG_007098.2:g.811145_811168del , LRG_351:g.811145_811168del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8697-2_8718del
ENST00000682358.1:n.8767-2_8788del
ENST00000683334.1:c.*4379-2_*4400del
ENST00000357162.7:c.8622-2_8643del
ENST00000358544.7:c.8697-2_8718del
ENST00000357162.6:c.8622-2_8643del
ENST00000358544.6:c.8697-2_8718del
NM_017890.4:c.8697-2_8718del , LRG_351t1:c.8697-2_8718del
NM_152564.4:c.8622-2_8643del , LRG_351t2:c.8622-2_8643del
XM_005250800.2:c.8697-2_8718del
XM_005250801.3:c.8697-2_8718del
XM_011516848.1:c.8694-2_8715del
XM_011516849.1:c.8619-2_8640del
XM_011516850.1:c.8319-2_8340del
XM_011516851.1:c.5583-2_5604del
XM_011516852.1:c.5583-2_5604del
XM_011516854.1:c.4476-2_4497del
XM_005250800.3:c.8697-2_8718del
XM_005250801.5:c.8697-2_8718del
XM_011516848.2:c.8694-2_8715del
XM_011516849.2:c.8619-2_8640del
XM_011516850.2:c.8319-2_8340del
XM_011516851.2:c.5583-2_5604del
XM_011516852.2:c.5583-2_5604del
XM_011516854.2:c.4476-2_4497del
XM_017013109.1:c.8502-2_8523del
XM_017013111.1:c.5583-2_5604del
XM_017013112.1:c.4254-2_4275del
XM_024447074.1:c.7482-2_7503del
NM_017890.5:c.8697-2_8718del
NM_152564.5:c.8622-2_8643del