Canonical Allele Identifier: CA2781481462

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868587_99868589del , CM000670.2:g.99868587_99868589del	GRCh38
NC_000008.10:g.100880815_100880817del , CM000670.1:g.100880815_100880817del	GRCh37
NC_000008.9:g.100949991_100949993del	NCBI36
NG_007098.2:g.860322_860324del , LRG_351:g.860322_860324del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+122_*561+124del	ENSP00000507923.1:n.*561+122_*561+124del
ENST00000682358.1:n.11537+122_11537+124del
ENST00000683334.1:c.*7149+122_*7149+124del	ENSP00000507369.1:n.*7149+122_*7149+124del
ENST00000357162.7:c.11392+122_11392+124del MANE Select	ENSP00000349685.2:n.11392+122_11392+124del
ENST00000358544.7:c.11467+122_11467+124del MANE Plus Clinical	ENSP00000351346.2:n.11467+122_11467+124del
ENST00000357162.6:c.11392+122_11392+124del	ENSP00000349685.2:n.11392+122_11392+124del
ENST00000358544.6:c.11467+122_11467+124del	ENSP00000351346.2:n.11467+122_11467+124del
ENST00000493587.1:n.409+122_409+124del
NM_017890.4:c.11467+122_11467+124del , LRG_351t1:c.11467+122_11467+124del	NP_060360.3:n.11467+122_11467+124del
NM_152564.4:c.11392+122_11392+124del , LRG_351t2:c.11392+122_11392+124del	NP_689777.3:n.11392+122_11392+124del
XM_005250800.2:c.11467+122_11467+124del	XP_005250857.1:n.11467+122_11467+124del
XM_005250801.3:c.11467+122_11467+124del	XP_005250858.1:n.11467+122_11467+124del
XM_011516848.1:c.11464+122_11464+124del	XP_011515150.1:n.11464+122_11464+124del
XM_011516849.1:c.11389+122_11389+124del	XP_011515151.1:n.11389+122_11389+124del
XM_011516850.1:c.11089+122_11089+124del	XP_011515152.1:n.11089+122_11089+124del
XM_011516851.1:c.8353+122_8353+124del	XP_011515153.1:n.8353+122_8353+124del
XM_011516852.1:c.8353+122_8353+124del	XP_011515154.1:n.8353+122_8353+124del
XM_011516854.1:c.7246+122_7246+124del	XP_011515156.1:n.7246+122_7246+124del
XM_005250800.3:c.11467+122_11467+124del	XP_005250857.1:n.11467+122_11467+124del
XM_005250801.5:c.11467+122_11467+124del	XP_005250858.1:n.11467+122_11467+124del
XM_011516848.2:c.11464+122_11464+124del	XP_011515150.1:n.11464+122_11464+124del
XM_011516849.2:c.11389+122_11389+124del	XP_011515151.1:n.11389+122_11389+124del
XM_011516850.2:c.11089+122_11089+124del	XP_011515152.1:n.11089+122_11089+124del
XM_011516851.2:c.8353+122_8353+124del	XP_011515153.1:n.8353+122_8353+124del
XM_011516852.2:c.8353+122_8353+124del	XP_011515154.1:n.8353+122_8353+124del
XM_011516854.2:c.7246+122_7246+124del	XP_011515156.1:n.7246+122_7246+124del
XM_017013109.1:c.11272+122_11272+124del	XP_016868598.1:n.11272+122_11272+124del
XM_017013111.1:c.8353+122_8353+124del	XP_016868600.1:n.8353+122_8353+124del
XM_017013112.1:c.7024+122_7024+124del	XP_016868601.1:n.7024+122_7024+124del
XM_024447074.1:c.10252+122_10252+124del	XP_024302842.1:n.10252+122_10252+124del
NM_017890.5:c.11467+122_11467+124del MANE Plus Clinical	NP_060360.3:n.11467+122_11467+124del
NM_152564.5:c.11392+122_11392+124del MANE Select	NP_689777.3:n.11392+122_11392+124del