Canonical Allele Identifier: CA2781481404

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868516_99868517insA , CM000670.2:g.99868516_99868517insA	GRCh38
NC_000008.10:g.100880744_100880745insA , CM000670.1:g.100880744_100880745insA	GRCh37
NC_000008.9:g.100949920_100949921insA	NCBI36
NG_007098.2:g.860251_860252insA , LRG_351:g.860251_860252insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+51_*561+52insA	ENSP00000507923.1:n.*561+51_*561+52insA
ENST00000682358.1:n.11537+51_11537+52insA
ENST00000683334.1:c.*7149+51_*7149+52insA	ENSP00000507369.1:n.*7149+51_*7149+52insA
ENST00000357162.7:c.11392+51_11392+52insA MANE Select	ENSP00000349685.2:n.11392+51_11392+52insA
ENST00000358544.7:c.11467+51_11467+52insA MANE Plus Clinical	ENSP00000351346.2:n.11467+51_11467+52insA
ENST00000357162.6:c.11392+51_11392+52insA	ENSP00000349685.2:n.11392+51_11392+52insA
ENST00000358544.6:c.11467+51_11467+52insA	ENSP00000351346.2:n.11467+51_11467+52insA
ENST00000493587.1:n.409+51_409+52insA
NM_017890.4:c.11467+51_11467+52insA , LRG_351t1:c.11467+51_11467+52insA	NP_060360.3:n.11467+51_11467+52insA
NM_152564.4:c.11392+51_11392+52insA , LRG_351t2:c.11392+51_11392+52insA	NP_689777.3:n.11392+51_11392+52insA
XM_005250800.2:c.11467+51_11467+52insA	XP_005250857.1:n.11467+51_11467+52insA
XM_005250801.3:c.11467+51_11467+52insA	XP_005250858.1:n.11467+51_11467+52insA
XM_011516848.1:c.11464+51_11464+52insA	XP_011515150.1:n.11464+51_11464+52insA
XM_011516849.1:c.11389+51_11389+52insA	XP_011515151.1:n.11389+51_11389+52insA
XM_011516850.1:c.11089+51_11089+52insA	XP_011515152.1:n.11089+51_11089+52insA
XM_011516851.1:c.8353+51_8353+52insA	XP_011515153.1:n.8353+51_8353+52insA
XM_011516852.1:c.8353+51_8353+52insA	XP_011515154.1:n.8353+51_8353+52insA
XM_011516854.1:c.7246+51_7246+52insA	XP_011515156.1:n.7246+51_7246+52insA
XM_005250800.3:c.11467+51_11467+52insA	XP_005250857.1:n.11467+51_11467+52insA
XM_005250801.5:c.11467+51_11467+52insA	XP_005250858.1:n.11467+51_11467+52insA
XM_011516848.2:c.11464+51_11464+52insA	XP_011515150.1:n.11464+51_11464+52insA
XM_011516849.2:c.11389+51_11389+52insA	XP_011515151.1:n.11389+51_11389+52insA
XM_011516850.2:c.11089+51_11089+52insA	XP_011515152.1:n.11089+51_11089+52insA
XM_011516851.2:c.8353+51_8353+52insA	XP_011515153.1:n.8353+51_8353+52insA
XM_011516852.2:c.8353+51_8353+52insA	XP_011515154.1:n.8353+51_8353+52insA
XM_011516854.2:c.7246+51_7246+52insA	XP_011515156.1:n.7246+51_7246+52insA
XM_017013109.1:c.11272+51_11272+52insA	XP_016868598.1:n.11272+51_11272+52insA
XM_017013111.1:c.8353+51_8353+52insA	XP_016868600.1:n.8353+51_8353+52insA
XM_017013112.1:c.7024+51_7024+52insA	XP_016868601.1:n.7024+51_7024+52insA
XM_024447074.1:c.10252+51_10252+52insA	XP_024302842.1:n.10252+51_10252+52insA
NM_017890.5:c.11467+51_11467+52insA MANE Plus Clinical	NP_060360.3:n.11467+51_11467+52insA
NM_152564.5:c.11392+51_11392+52insA MANE Select	NP_689777.3:n.11392+51_11392+52insA