Canonical Allele Identifier: CA2781481453

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868575_99868576insACAG , CM000670.2:g.99868575_99868576insACAG	GRCh38
NC_000008.10:g.100880803_100880804insACAG , CM000670.1:g.100880803_100880804insACAG	GRCh37
NC_000008.9:g.100949979_100949980insACAG	NCBI36
NG_007098.2:g.860310_860311insACAG , LRG_351:g.860310_860311insACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+110_*561+111insACAG	ENSP00000507923.1:n.*561+110_*561+111insACAG
ENST00000682358.1:n.11537+110_11537+111insACAG
ENST00000683334.1:c.*7149+110_*7149+111insACAG	ENSP00000507369.1:n.*7149+110_*7149+111insACAG
ENST00000357162.7:c.11392+110_11392+111insACAG MANE Select	ENSP00000349685.2:n.11392+110_11392+111insACAG
ENST00000358544.7:c.11467+110_11467+111insACAG MANE Plus Clinical	ENSP00000351346.2:n.11467+110_11467+111insACAG
ENST00000357162.6:c.11392+110_11392+111insACAG	ENSP00000349685.2:n.11392+110_11392+111insACAG
ENST00000358544.6:c.11467+110_11467+111insACAG	ENSP00000351346.2:n.11467+110_11467+111insACAG
ENST00000493587.1:n.409+110_409+111insACAG
NM_017890.4:c.11467+110_11467+111insACAG , LRG_351t1:c.11467+110_11467+111insACAG	NP_060360.3:n.11467+110_11467+111insACAG
NM_152564.4:c.11392+110_11392+111insACAG , LRG_351t2:c.11392+110_11392+111insACAG	NP_689777.3:n.11392+110_11392+111insACAG
XM_005250800.2:c.11467+110_11467+111insACAG	XP_005250857.1:n.11467+110_11467+111insACAG
XM_005250801.3:c.11467+110_11467+111insACAG	XP_005250858.1:n.11467+110_11467+111insACAG
XM_011516848.1:c.11464+110_11464+111insACAG	XP_011515150.1:n.11464+110_11464+111insACAG
XM_011516849.1:c.11389+110_11389+111insACAG	XP_011515151.1:n.11389+110_11389+111insACAG
XM_011516850.1:c.11089+110_11089+111insACAG	XP_011515152.1:n.11089+110_11089+111insACAG
XM_011516851.1:c.8353+110_8353+111insACAG	XP_011515153.1:n.8353+110_8353+111insACAG
XM_011516852.1:c.8353+110_8353+111insACAG	XP_011515154.1:n.8353+110_8353+111insACAG
XM_011516854.1:c.7246+110_7246+111insACAG	XP_011515156.1:n.7246+110_7246+111insACAG
XM_005250800.3:c.11467+110_11467+111insACAG	XP_005250857.1:n.11467+110_11467+111insACAG
XM_005250801.5:c.11467+110_11467+111insACAG	XP_005250858.1:n.11467+110_11467+111insACAG
XM_011516848.2:c.11464+110_11464+111insACAG	XP_011515150.1:n.11464+110_11464+111insACAG
XM_011516849.2:c.11389+110_11389+111insACAG	XP_011515151.1:n.11389+110_11389+111insACAG
XM_011516850.2:c.11089+110_11089+111insACAG	XP_011515152.1:n.11089+110_11089+111insACAG
XM_011516851.2:c.8353+110_8353+111insACAG	XP_011515153.1:n.8353+110_8353+111insACAG
XM_011516852.2:c.8353+110_8353+111insACAG	XP_011515154.1:n.8353+110_8353+111insACAG
XM_011516854.2:c.7246+110_7246+111insACAG	XP_011515156.1:n.7246+110_7246+111insACAG
XM_017013109.1:c.11272+110_11272+111insACAG	XP_016868598.1:n.11272+110_11272+111insACAG
XM_017013111.1:c.8353+110_8353+111insACAG	XP_016868600.1:n.8353+110_8353+111insACAG
XM_017013112.1:c.7024+110_7024+111insACAG	XP_016868601.1:n.7024+110_7024+111insACAG
XM_024447074.1:c.10252+110_10252+111insACAG	XP_024302842.1:n.10252+110_10252+111insACAG
NM_017890.5:c.11467+110_11467+111insACAG MANE Plus Clinical	NP_060360.3:n.11467+110_11467+111insACAG
NM_152564.5:c.11392+110_11392+111insACAG MANE Select	NP_689777.3:n.11392+110_11392+111insACAG