Canonical Allele Identifier: CA1139660679

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 960681
• ClinVar RCV Id: RCV001234253

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99769013_99776930del , CM000670.2:g.99769013_99776930del	GRCh38
NC_000008.10:g.100781241_100789158del , CM000670.1:g.100781241_100789158del	GRCh37
NC_000008.9:g.100850417_100858334del	NCBI36
NG_007098.2:g.760748_768665del , LRG_351:g.760748_768665del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7322+2043_7478del
ENST00000682358.1:n.7392+2043_7548del
ENST00000683334.1:c.*3004+2043_*3160del
ENST00000357162.7:c.7247+2043_7403del
ENST00000358544.7:c.7322+2043_7478del
ENST00000357162.6:c.7247+2043_7403del
ENST00000358544.6:c.7322+2043_7478del
ENST00000518569.1:n.377+2043_378-1752del
NM_017890.4:c.7322+2043_7478del , LRG_351t1:c.7322+2043_7478del
NM_152564.4:c.7247+2043_7403del , LRG_351t2:c.7247+2043_7403del
XM_005250800.2:c.7322+2043_7478del
XM_005250801.3:c.7322+2043_7478del
XM_011516848.1:c.7319+2043_7475del
XM_011516849.1:c.7244+2043_7400del
XM_011516850.1:c.6944+2043_7100del
XM_011516851.1:c.4208+2043_4364del
XM_011516852.1:c.4208+2043_4364del
XM_011516853.1:c.7322+2043_7478del
XM_011516854.1:c.3101+2043_3257del
XR_928446.1:n.1830+5550_2065+1677del
XM_005250800.3:c.7322+2043_7478del
XM_005250801.5:c.7322+2043_7478del
XM_011516848.2:c.7319+2043_7475del
XM_011516849.2:c.7244+2043_7400del
XM_011516850.2:c.6944+2043_7100del
XM_011516851.2:c.4208+2043_4364del
XM_011516852.2:c.4208+2043_4364del
XM_011516853.2:c.7322+2043_7478del
XM_011516854.2:c.3101+2043_3257del
XM_017013109.1:c.7127+2043_7283del
XM_017013111.1:c.4208+2043_4364del
XM_017013112.1:c.2879+2043_3035del
XM_024447074.1:c.6107+2043_6263del
NM_017890.5:c.7322+2043_7478del
NM_152564.5:c.7247+2043_7403del