Canonical Allele Identifier: CA658823168

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 553534
• ClinVar RCV Id: RCV000669006
• dbSNP Id: rs1554575693
• gnomAD v4: 8-99835724-AGTCAGGGAACACAG-A
• MyVariant Identifiers: chr8:g.99835730_99835743del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835730_99835743del , CM000670.2:g.99835730_99835743del	GRCh38
NC_000008.10:g.100847958_100847971del , CM000670.1:g.100847958_100847971del	GRCh37
NC_000008.9:g.100917134_100917147del	NCBI36
NG_007098.2:g.827465_827478del , LRG_351:g.827465_827478del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10009_10017+5del
ENST00000682358.1:n.10079_10087+5del
ENST00000683334.1:c.*5691_*5699+5del
ENST00000357162.7:c.9934_9942+5del
ENST00000358544.7:c.10009_10017+5del
ENST00000357162.6:c.9934_9942+5del
ENST00000358544.6:c.10009_10017+5del
NM_017890.4:c.10009_10017+5del , LRG_351t1:c.10009_10017+5del
NM_152564.4:c.9934_9942+5del , LRG_351t2:c.9934_9942+5del
XM_005250800.2:c.10009_10017+5del
XM_005250801.3:c.10009_10017+5del
XM_011516848.1:c.10006_10014+5del
XM_011516849.1:c.9931_9939+5del
XM_011516850.1:c.9631_9639+5del
XM_011516851.1:c.6895_6903+5del
XM_011516852.1:c.6895_6903+5del
XM_011516854.1:c.5788_5796+5del
XM_005250800.3:c.10009_10017+5del
XM_005250801.5:c.10009_10017+5del
XM_011516848.2:c.10006_10014+5del
XM_011516849.2:c.9931_9939+5del
XM_011516850.2:c.9631_9639+5del
XM_011516851.2:c.6895_6903+5del
XM_011516852.2:c.6895_6903+5del
XM_011516854.2:c.5788_5796+5del
XM_017013109.1:c.9814_9822+5del
XM_017013111.1:c.6895_6903+5del
XM_017013112.1:c.5566_5574+5del
XM_024447074.1:c.8794_8802+5del
NM_017890.5:c.10009_10017+5del
NM_152564.5:c.9934_9942+5del