Canonical Allele Identifier: CA2781481435

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868547_99868548insG , CM000670.2:g.99868547_99868548insG	GRCh38
NC_000008.10:g.100880775_100880776insG , CM000670.1:g.100880775_100880776insG	GRCh37
NC_000008.9:g.100949951_100949952insG	NCBI36
NG_007098.2:g.860282_860283insG , LRG_351:g.860282_860283insG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+82_*561+83insG	ENSP00000507923.1:n.*561+82_*561+83insG
ENST00000682358.1:n.11537+82_11537+83insG
ENST00000683334.1:c.*7149+82_*7149+83insG	ENSP00000507369.1:n.*7149+82_*7149+83insG
ENST00000357162.7:c.11392+82_11392+83insG MANE Select	ENSP00000349685.2:n.11392+82_11392+83insG
ENST00000358544.7:c.11467+82_11467+83insG MANE Plus Clinical	ENSP00000351346.2:n.11467+82_11467+83insG
ENST00000357162.6:c.11392+82_11392+83insG	ENSP00000349685.2:n.11392+82_11392+83insG
ENST00000358544.6:c.11467+82_11467+83insG	ENSP00000351346.2:n.11467+82_11467+83insG
ENST00000493587.1:n.409+82_409+83insG
NM_017890.4:c.11467+82_11467+83insG , LRG_351t1:c.11467+82_11467+83insG	NP_060360.3:n.11467+82_11467+83insG
NM_152564.4:c.11392+82_11392+83insG , LRG_351t2:c.11392+82_11392+83insG	NP_689777.3:n.11392+82_11392+83insG
XM_005250800.2:c.11467+82_11467+83insG	XP_005250857.1:n.11467+82_11467+83insG
XM_005250801.3:c.11467+82_11467+83insG	XP_005250858.1:n.11467+82_11467+83insG
XM_011516848.1:c.11464+82_11464+83insG	XP_011515150.1:n.11464+82_11464+83insG
XM_011516849.1:c.11389+82_11389+83insG	XP_011515151.1:n.11389+82_11389+83insG
XM_011516850.1:c.11089+82_11089+83insG	XP_011515152.1:n.11089+82_11089+83insG
XM_011516851.1:c.8353+82_8353+83insG	XP_011515153.1:n.8353+82_8353+83insG
XM_011516852.1:c.8353+82_8353+83insG	XP_011515154.1:n.8353+82_8353+83insG
XM_011516854.1:c.7246+82_7246+83insG	XP_011515156.1:n.7246+82_7246+83insG
XM_005250800.3:c.11467+82_11467+83insG	XP_005250857.1:n.11467+82_11467+83insG
XM_005250801.5:c.11467+82_11467+83insG	XP_005250858.1:n.11467+82_11467+83insG
XM_011516848.2:c.11464+82_11464+83insG	XP_011515150.1:n.11464+82_11464+83insG
XM_011516849.2:c.11389+82_11389+83insG	XP_011515151.1:n.11389+82_11389+83insG
XM_011516850.2:c.11089+82_11089+83insG	XP_011515152.1:n.11089+82_11089+83insG
XM_011516851.2:c.8353+82_8353+83insG	XP_011515153.1:n.8353+82_8353+83insG
XM_011516852.2:c.8353+82_8353+83insG	XP_011515154.1:n.8353+82_8353+83insG
XM_011516854.2:c.7246+82_7246+83insG	XP_011515156.1:n.7246+82_7246+83insG
XM_017013109.1:c.11272+82_11272+83insG	XP_016868598.1:n.11272+82_11272+83insG
XM_017013111.1:c.8353+82_8353+83insG	XP_016868600.1:n.8353+82_8353+83insG
XM_017013112.1:c.7024+82_7024+83insG	XP_016868601.1:n.7024+82_7024+83insG
XM_024447074.1:c.10252+82_10252+83insG	XP_024302842.1:n.10252+82_10252+83insG
NM_017890.5:c.11467+82_11467+83insG MANE Plus Clinical	NP_060360.3:n.11467+82_11467+83insG
NM_152564.5:c.11392+82_11392+83insG MANE Select	NP_689777.3:n.11392+82_11392+83insG