Canonical Allele Identifier: CA2781481380

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868479_99868486del , CM000670.2:g.99868479_99868486del	GRCh38
NC_000008.10:g.100880707_100880714del , CM000670.1:g.100880707_100880714del	GRCh37
NC_000008.9:g.100949883_100949890del	NCBI36
NG_007098.2:g.860214_860221del , LRG_351:g.860214_860221del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+14_*561+21del	ENSP00000507923.1:n.*561+14_*561+21del
ENST00000682358.1:n.11537+14_11537+21del
ENST00000683334.1:c.*7149+14_*7149+21del	ENSP00000507369.1:n.*7149+14_*7149+21del
ENST00000357162.7:c.11392+14_11392+21del MANE Select	ENSP00000349685.2:n.11392+14_11392+21del
ENST00000358544.7:c.11467+14_11467+21del MANE Plus Clinical	ENSP00000351346.2:n.11467+14_11467+21del
ENST00000357162.6:c.11392+14_11392+21del	ENSP00000349685.2:n.11392+14_11392+21del
ENST00000358544.6:c.11467+14_11467+21del	ENSP00000351346.2:n.11467+14_11467+21del
ENST00000493587.1:n.409+14_409+21del
NM_017890.4:c.11467+14_11467+21del , LRG_351t1:c.11467+14_11467+21del	NP_060360.3:n.11467+14_11467+21del
NM_152564.4:c.11392+14_11392+21del , LRG_351t2:c.11392+14_11392+21del	NP_689777.3:n.11392+14_11392+21del
XM_005250800.2:c.11467+14_11467+21del	XP_005250857.1:n.11467+14_11467+21del
XM_005250801.3:c.11467+14_11467+21del	XP_005250858.1:n.11467+14_11467+21del
XM_011516848.1:c.11464+14_11464+21del	XP_011515150.1:n.11464+14_11464+21del
XM_011516849.1:c.11389+14_11389+21del	XP_011515151.1:n.11389+14_11389+21del
XM_011516850.1:c.11089+14_11089+21del	XP_011515152.1:n.11089+14_11089+21del
XM_011516851.1:c.8353+14_8353+21del	XP_011515153.1:n.8353+14_8353+21del
XM_011516852.1:c.8353+14_8353+21del	XP_011515154.1:n.8353+14_8353+21del
XM_011516854.1:c.7246+14_7246+21del	XP_011515156.1:n.7246+14_7246+21del
XM_005250800.3:c.11467+14_11467+21del	XP_005250857.1:n.11467+14_11467+21del
XM_005250801.5:c.11467+14_11467+21del	XP_005250858.1:n.11467+14_11467+21del
XM_011516848.2:c.11464+14_11464+21del	XP_011515150.1:n.11464+14_11464+21del
XM_011516849.2:c.11389+14_11389+21del	XP_011515151.1:n.11389+14_11389+21del
XM_011516850.2:c.11089+14_11089+21del	XP_011515152.1:n.11089+14_11089+21del
XM_011516851.2:c.8353+14_8353+21del	XP_011515153.1:n.8353+14_8353+21del
XM_011516852.2:c.8353+14_8353+21del	XP_011515154.1:n.8353+14_8353+21del
XM_011516854.2:c.7246+14_7246+21del	XP_011515156.1:n.7246+14_7246+21del
XM_017013109.1:c.11272+14_11272+21del	XP_016868598.1:n.11272+14_11272+21del
XM_017013111.1:c.8353+14_8353+21del	XP_016868600.1:n.8353+14_8353+21del
XM_017013112.1:c.7024+14_7024+21del	XP_016868601.1:n.7024+14_7024+21del
XM_024447074.1:c.10252+14_10252+21del	XP_024302842.1:n.10252+14_10252+21del
NM_017890.5:c.11467+14_11467+21del MANE Plus Clinical	NP_060360.3:n.11467+14_11467+21del
NM_152564.5:c.11392+14_11392+21del MANE Select	NP_689777.3:n.11392+14_11392+21del