Canonical Allele Identifier: CA2781481414

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868526_99868527insGTG , CM000670.2:g.99868526_99868527insGTG	GRCh38
NC_000008.10:g.100880754_100880755insGTG , CM000670.1:g.100880754_100880755insGTG	GRCh37
NC_000008.9:g.100949930_100949931insGTG	NCBI36
NG_007098.2:g.860261_860262insGTG , LRG_351:g.860261_860262insGTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+61_*561+62insGTG	ENSP00000507923.1:n.*561+61_*561+62insGTG
ENST00000682358.1:n.11537+61_11537+62insGTG
ENST00000683334.1:c.*7149+61_*7149+62insGTG	ENSP00000507369.1:n.*7149+61_*7149+62insGTG
ENST00000357162.7:c.11392+61_11392+62insGTG MANE Select	ENSP00000349685.2:n.11392+61_11392+62insGTG
ENST00000358544.7:c.11467+61_11467+62insGTG MANE Plus Clinical	ENSP00000351346.2:n.11467+61_11467+62insGTG
ENST00000357162.6:c.11392+61_11392+62insGTG	ENSP00000349685.2:n.11392+61_11392+62insGTG
ENST00000358544.6:c.11467+61_11467+62insGTG	ENSP00000351346.2:n.11467+61_11467+62insGTG
ENST00000493587.1:n.409+61_409+62insGTG
NM_017890.4:c.11467+61_11467+62insGTG , LRG_351t1:c.11467+61_11467+62insGTG	NP_060360.3:n.11467+61_11467+62insGTG
NM_152564.4:c.11392+61_11392+62insGTG , LRG_351t2:c.11392+61_11392+62insGTG	NP_689777.3:n.11392+61_11392+62insGTG
XM_005250800.2:c.11467+61_11467+62insGTG	XP_005250857.1:n.11467+61_11467+62insGTG
XM_005250801.3:c.11467+61_11467+62insGTG	XP_005250858.1:n.11467+61_11467+62insGTG
XM_011516848.1:c.11464+61_11464+62insGTG	XP_011515150.1:n.11464+61_11464+62insGTG
XM_011516849.1:c.11389+61_11389+62insGTG	XP_011515151.1:n.11389+61_11389+62insGTG
XM_011516850.1:c.11089+61_11089+62insGTG	XP_011515152.1:n.11089+61_11089+62insGTG
XM_011516851.1:c.8353+61_8353+62insGTG	XP_011515153.1:n.8353+61_8353+62insGTG
XM_011516852.1:c.8353+61_8353+62insGTG	XP_011515154.1:n.8353+61_8353+62insGTG
XM_011516854.1:c.7246+61_7246+62insGTG	XP_011515156.1:n.7246+61_7246+62insGTG
XM_005250800.3:c.11467+61_11467+62insGTG	XP_005250857.1:n.11467+61_11467+62insGTG
XM_005250801.5:c.11467+61_11467+62insGTG	XP_005250858.1:n.11467+61_11467+62insGTG
XM_011516848.2:c.11464+61_11464+62insGTG	XP_011515150.1:n.11464+61_11464+62insGTG
XM_011516849.2:c.11389+61_11389+62insGTG	XP_011515151.1:n.11389+61_11389+62insGTG
XM_011516850.2:c.11089+61_11089+62insGTG	XP_011515152.1:n.11089+61_11089+62insGTG
XM_011516851.2:c.8353+61_8353+62insGTG	XP_011515153.1:n.8353+61_8353+62insGTG
XM_011516852.2:c.8353+61_8353+62insGTG	XP_011515154.1:n.8353+61_8353+62insGTG
XM_011516854.2:c.7246+61_7246+62insGTG	XP_011515156.1:n.7246+61_7246+62insGTG
XM_017013109.1:c.11272+61_11272+62insGTG	XP_016868598.1:n.11272+61_11272+62insGTG
XM_017013111.1:c.8353+61_8353+62insGTG	XP_016868600.1:n.8353+61_8353+62insGTG
XM_017013112.1:c.7024+61_7024+62insGTG	XP_016868601.1:n.7024+61_7024+62insGTG
XM_024447074.1:c.10252+61_10252+62insGTG	XP_024302842.1:n.10252+61_10252+62insGTG
NM_017890.5:c.11467+61_11467+62insGTG MANE Plus Clinical	NP_060360.3:n.11467+61_11467+62insGTG
NM_152564.5:c.11392+61_11392+62insGTG MANE Select	NP_689777.3:n.11392+61_11392+62insGTG