Canonical Allele Identifier: CA2781481399

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868511_99868512insAG , CM000670.2:g.99868511_99868512insAG	GRCh38
NC_000008.10:g.100880739_100880740insAG , CM000670.1:g.100880739_100880740insAG	GRCh37
NC_000008.9:g.100949915_100949916insAG	NCBI36
NG_007098.2:g.860246_860247insAG , LRG_351:g.860246_860247insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+46_*561+47insAG	ENSP00000507923.1:n.*561+46_*561+47insAG
ENST00000682358.1:n.11537+46_11537+47insAG
ENST00000683334.1:c.*7149+46_*7149+47insAG	ENSP00000507369.1:n.*7149+46_*7149+47insAG
ENST00000357162.7:c.11392+46_11392+47insAG MANE Select	ENSP00000349685.2:n.11392+46_11392+47insAG
ENST00000358544.7:c.11467+46_11467+47insAG MANE Plus Clinical	ENSP00000351346.2:n.11467+46_11467+47insAG
ENST00000357162.6:c.11392+46_11392+47insAG	ENSP00000349685.2:n.11392+46_11392+47insAG
ENST00000358544.6:c.11467+46_11467+47insAG	ENSP00000351346.2:n.11467+46_11467+47insAG
ENST00000493587.1:n.409+46_409+47insAG
NM_017890.4:c.11467+46_11467+47insAG , LRG_351t1:c.11467+46_11467+47insAG	NP_060360.3:n.11467+46_11467+47insAG
NM_152564.4:c.11392+46_11392+47insAG , LRG_351t2:c.11392+46_11392+47insAG	NP_689777.3:n.11392+46_11392+47insAG
XM_005250800.2:c.11467+46_11467+47insAG	XP_005250857.1:n.11467+46_11467+47insAG
XM_005250801.3:c.11467+46_11467+47insAG	XP_005250858.1:n.11467+46_11467+47insAG
XM_011516848.1:c.11464+46_11464+47insAG	XP_011515150.1:n.11464+46_11464+47insAG
XM_011516849.1:c.11389+46_11389+47insAG	XP_011515151.1:n.11389+46_11389+47insAG
XM_011516850.1:c.11089+46_11089+47insAG	XP_011515152.1:n.11089+46_11089+47insAG
XM_011516851.1:c.8353+46_8353+47insAG	XP_011515153.1:n.8353+46_8353+47insAG
XM_011516852.1:c.8353+46_8353+47insAG	XP_011515154.1:n.8353+46_8353+47insAG
XM_011516854.1:c.7246+46_7246+47insAG	XP_011515156.1:n.7246+46_7246+47insAG
XM_005250800.3:c.11467+46_11467+47insAG	XP_005250857.1:n.11467+46_11467+47insAG
XM_005250801.5:c.11467+46_11467+47insAG	XP_005250858.1:n.11467+46_11467+47insAG
XM_011516848.2:c.11464+46_11464+47insAG	XP_011515150.1:n.11464+46_11464+47insAG
XM_011516849.2:c.11389+46_11389+47insAG	XP_011515151.1:n.11389+46_11389+47insAG
XM_011516850.2:c.11089+46_11089+47insAG	XP_011515152.1:n.11089+46_11089+47insAG
XM_011516851.2:c.8353+46_8353+47insAG	XP_011515153.1:n.8353+46_8353+47insAG
XM_011516852.2:c.8353+46_8353+47insAG	XP_011515154.1:n.8353+46_8353+47insAG
XM_011516854.2:c.7246+46_7246+47insAG	XP_011515156.1:n.7246+46_7246+47insAG
XM_017013109.1:c.11272+46_11272+47insAG	XP_016868598.1:n.11272+46_11272+47insAG
XM_017013111.1:c.8353+46_8353+47insAG	XP_016868600.1:n.8353+46_8353+47insAG
XM_017013112.1:c.7024+46_7024+47insAG	XP_016868601.1:n.7024+46_7024+47insAG
XM_024447074.1:c.10252+46_10252+47insAG	XP_024302842.1:n.10252+46_10252+47insAG
NM_017890.5:c.11467+46_11467+47insAG MANE Plus Clinical	NP_060360.3:n.11467+46_11467+47insAG
NM_152564.5:c.11392+46_11392+47insAG MANE Select	NP_689777.3:n.11392+46_11392+47insAG