Canonical Allele Identifier: CA2781481407

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868517_99868518insA , CM000670.2:g.99868517_99868518insA	GRCh38
NC_000008.10:g.100880745_100880746insA , CM000670.1:g.100880745_100880746insA	GRCh37
NC_000008.9:g.100949921_100949922insA	NCBI36
NG_007098.2:g.860252_860253insA , LRG_351:g.860252_860253insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+52_*561+53insA	ENSP00000507923.1:n.*561+52_*561+53insA
ENST00000682358.1:n.11537+52_11537+53insA
ENST00000683334.1:c.*7149+52_*7149+53insA	ENSP00000507369.1:n.*7149+52_*7149+53insA
ENST00000357162.7:c.11392+52_11392+53insA MANE Select	ENSP00000349685.2:n.11392+52_11392+53insA
ENST00000358544.7:c.11467+52_11467+53insA MANE Plus Clinical	ENSP00000351346.2:n.11467+52_11467+53insA
ENST00000357162.6:c.11392+52_11392+53insA	ENSP00000349685.2:n.11392+52_11392+53insA
ENST00000358544.6:c.11467+52_11467+53insA	ENSP00000351346.2:n.11467+52_11467+53insA
ENST00000493587.1:n.409+52_409+53insA
NM_017890.4:c.11467+52_11467+53insA , LRG_351t1:c.11467+52_11467+53insA	NP_060360.3:n.11467+52_11467+53insA
NM_152564.4:c.11392+52_11392+53insA , LRG_351t2:c.11392+52_11392+53insA	NP_689777.3:n.11392+52_11392+53insA
XM_005250800.2:c.11467+52_11467+53insA	XP_005250857.1:n.11467+52_11467+53insA
XM_005250801.3:c.11467+52_11467+53insA	XP_005250858.1:n.11467+52_11467+53insA
XM_011516848.1:c.11464+52_11464+53insA	XP_011515150.1:n.11464+52_11464+53insA
XM_011516849.1:c.11389+52_11389+53insA	XP_011515151.1:n.11389+52_11389+53insA
XM_011516850.1:c.11089+52_11089+53insA	XP_011515152.1:n.11089+52_11089+53insA
XM_011516851.1:c.8353+52_8353+53insA	XP_011515153.1:n.8353+52_8353+53insA
XM_011516852.1:c.8353+52_8353+53insA	XP_011515154.1:n.8353+52_8353+53insA
XM_011516854.1:c.7246+52_7246+53insA	XP_011515156.1:n.7246+52_7246+53insA
XM_005250800.3:c.11467+52_11467+53insA	XP_005250857.1:n.11467+52_11467+53insA
XM_005250801.5:c.11467+52_11467+53insA	XP_005250858.1:n.11467+52_11467+53insA
XM_011516848.2:c.11464+52_11464+53insA	XP_011515150.1:n.11464+52_11464+53insA
XM_011516849.2:c.11389+52_11389+53insA	XP_011515151.1:n.11389+52_11389+53insA
XM_011516850.2:c.11089+52_11089+53insA	XP_011515152.1:n.11089+52_11089+53insA
XM_011516851.2:c.8353+52_8353+53insA	XP_011515153.1:n.8353+52_8353+53insA
XM_011516852.2:c.8353+52_8353+53insA	XP_011515154.1:n.8353+52_8353+53insA
XM_011516854.2:c.7246+52_7246+53insA	XP_011515156.1:n.7246+52_7246+53insA
XM_017013109.1:c.11272+52_11272+53insA	XP_016868598.1:n.11272+52_11272+53insA
XM_017013111.1:c.8353+52_8353+53insA	XP_016868600.1:n.8353+52_8353+53insA
XM_017013112.1:c.7024+52_7024+53insA	XP_016868601.1:n.7024+52_7024+53insA
XM_024447074.1:c.10252+52_10252+53insA	XP_024302842.1:n.10252+52_10252+53insA
NM_017890.5:c.11467+52_11467+53insA MANE Plus Clinical	NP_060360.3:n.11467+52_11467+53insA
NM_152564.5:c.11392+52_11392+53insA MANE Select	NP_689777.3:n.11392+52_11392+53insA