Canonical Allele Identifier: CA1117129803

Gene: VPS13B

Linked Data

• dbSNP Id: rs1817219616
• gnomAD v3: 8-99868542-AGT-A
• gnomAD v4: 8-99868542-AGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868545_99868546del , CM000670.2:g.99868545_99868546del	GRCh38
NC_000008.10:g.100880773_100880774del , CM000670.1:g.100880773_100880774del	GRCh37
NC_000008.9:g.100949949_100949950del	NCBI36
NG_007098.2:g.860280_860281del , LRG_351:g.860280_860281del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+80_*561+81del	ENSP00000507923.1:n.*561+80_*561+81del
ENST00000682358.1:n.11537+80_11537+81del
ENST00000683334.1:c.*7149+80_*7149+81del	ENSP00000507369.1:n.*7149+80_*7149+81del
ENST00000357162.7:c.11392+80_11392+81del MANE Select	ENSP00000349685.2:n.11392+80_11392+81del
ENST00000358544.7:c.11467+80_11467+81del MANE Plus Clinical	ENSP00000351346.2:n.11467+80_11467+81del
ENST00000357162.6:c.11392+80_11392+81del	ENSP00000349685.2:n.11392+80_11392+81del
ENST00000358544.6:c.11467+80_11467+81del	ENSP00000351346.2:n.11467+80_11467+81del
ENST00000493587.1:n.409+80_409+81del
NM_017890.4:c.11467+80_11467+81del , LRG_351t1:c.11467+80_11467+81del	NP_060360.3:n.11467+80_11467+81del
NM_152564.4:c.11392+80_11392+81del , LRG_351t2:c.11392+80_11392+81del	NP_689777.3:n.11392+80_11392+81del
XM_005250800.2:c.11467+80_11467+81del	XP_005250857.1:n.11467+80_11467+81del
XM_005250801.3:c.11467+80_11467+81del	XP_005250858.1:n.11467+80_11467+81del
XM_011516848.1:c.11464+80_11464+81del	XP_011515150.1:n.11464+80_11464+81del
XM_011516849.1:c.11389+80_11389+81del	XP_011515151.1:n.11389+80_11389+81del
XM_011516850.1:c.11089+80_11089+81del	XP_011515152.1:n.11089+80_11089+81del
XM_011516851.1:c.8353+80_8353+81del	XP_011515153.1:n.8353+80_8353+81del
XM_011516852.1:c.8353+80_8353+81del	XP_011515154.1:n.8353+80_8353+81del
XM_011516854.1:c.7246+80_7246+81del	XP_011515156.1:n.7246+80_7246+81del
XM_005250800.3:c.11467+80_11467+81del	XP_005250857.1:n.11467+80_11467+81del
XM_005250801.5:c.11467+80_11467+81del	XP_005250858.1:n.11467+80_11467+81del
XM_011516848.2:c.11464+80_11464+81del	XP_011515150.1:n.11464+80_11464+81del
XM_011516849.2:c.11389+80_11389+81del	XP_011515151.1:n.11389+80_11389+81del
XM_011516850.2:c.11089+80_11089+81del	XP_011515152.1:n.11089+80_11089+81del
XM_011516851.2:c.8353+80_8353+81del	XP_011515153.1:n.8353+80_8353+81del
XM_011516852.2:c.8353+80_8353+81del	XP_011515154.1:n.8353+80_8353+81del
XM_011516854.2:c.7246+80_7246+81del	XP_011515156.1:n.7246+80_7246+81del
XM_017013109.1:c.11272+80_11272+81del	XP_016868598.1:n.11272+80_11272+81del
XM_017013111.1:c.8353+80_8353+81del	XP_016868600.1:n.8353+80_8353+81del
XM_017013112.1:c.7024+80_7024+81del	XP_016868601.1:n.7024+80_7024+81del
XM_024447074.1:c.10252+80_10252+81del	XP_024302842.1:n.10252+80_10252+81del
NM_017890.5:c.11467+80_11467+81del MANE Plus Clinical	NP_060360.3:n.11467+80_11467+81del
NM_152564.5:c.11392+80_11392+81del MANE Select	NP_689777.3:n.11392+80_11392+81del