Canonical Allele Identifier: CA2781481410

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868519_99868520insACA , CM000670.2:g.99868519_99868520insACA	GRCh38
NC_000008.10:g.100880747_100880748insACA , CM000670.1:g.100880747_100880748insACA	GRCh37
NC_000008.9:g.100949923_100949924insACA	NCBI36
NG_007098.2:g.860254_860255insACA , LRG_351:g.860254_860255insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+54_*561+55insACA	ENSP00000507923.1:n.*561+54_*561+55insACA
ENST00000682358.1:n.11537+54_11537+55insACA
ENST00000683334.1:c.*7149+54_*7149+55insACA	ENSP00000507369.1:n.*7149+54_*7149+55insACA
ENST00000357162.7:c.11392+54_11392+55insACA MANE Select	ENSP00000349685.2:n.11392+54_11392+55insACA
ENST00000358544.7:c.11467+54_11467+55insACA MANE Plus Clinical	ENSP00000351346.2:n.11467+54_11467+55insACA
ENST00000357162.6:c.11392+54_11392+55insACA	ENSP00000349685.2:n.11392+54_11392+55insACA
ENST00000358544.6:c.11467+54_11467+55insACA	ENSP00000351346.2:n.11467+54_11467+55insACA
ENST00000493587.1:n.409+54_409+55insACA
NM_017890.4:c.11467+54_11467+55insACA , LRG_351t1:c.11467+54_11467+55insACA	NP_060360.3:n.11467+54_11467+55insACA
NM_152564.4:c.11392+54_11392+55insACA , LRG_351t2:c.11392+54_11392+55insACA	NP_689777.3:n.11392+54_11392+55insACA
XM_005250800.2:c.11467+54_11467+55insACA	XP_005250857.1:n.11467+54_11467+55insACA
XM_005250801.3:c.11467+54_11467+55insACA	XP_005250858.1:n.11467+54_11467+55insACA
XM_011516848.1:c.11464+54_11464+55insACA	XP_011515150.1:n.11464+54_11464+55insACA
XM_011516849.1:c.11389+54_11389+55insACA	XP_011515151.1:n.11389+54_11389+55insACA
XM_011516850.1:c.11089+54_11089+55insACA	XP_011515152.1:n.11089+54_11089+55insACA
XM_011516851.1:c.8353+54_8353+55insACA	XP_011515153.1:n.8353+54_8353+55insACA
XM_011516852.1:c.8353+54_8353+55insACA	XP_011515154.1:n.8353+54_8353+55insACA
XM_011516854.1:c.7246+54_7246+55insACA	XP_011515156.1:n.7246+54_7246+55insACA
XM_005250800.3:c.11467+54_11467+55insACA	XP_005250857.1:n.11467+54_11467+55insACA
XM_005250801.5:c.11467+54_11467+55insACA	XP_005250858.1:n.11467+54_11467+55insACA
XM_011516848.2:c.11464+54_11464+55insACA	XP_011515150.1:n.11464+54_11464+55insACA
XM_011516849.2:c.11389+54_11389+55insACA	XP_011515151.1:n.11389+54_11389+55insACA
XM_011516850.2:c.11089+54_11089+55insACA	XP_011515152.1:n.11089+54_11089+55insACA
XM_011516851.2:c.8353+54_8353+55insACA	XP_011515153.1:n.8353+54_8353+55insACA
XM_011516852.2:c.8353+54_8353+55insACA	XP_011515154.1:n.8353+54_8353+55insACA
XM_011516854.2:c.7246+54_7246+55insACA	XP_011515156.1:n.7246+54_7246+55insACA
XM_017013109.1:c.11272+54_11272+55insACA	XP_016868598.1:n.11272+54_11272+55insACA
XM_017013111.1:c.8353+54_8353+55insACA	XP_016868600.1:n.8353+54_8353+55insACA
XM_017013112.1:c.7024+54_7024+55insACA	XP_016868601.1:n.7024+54_7024+55insACA
XM_024447074.1:c.10252+54_10252+55insACA	XP_024302842.1:n.10252+54_10252+55insACA
NM_017890.5:c.11467+54_11467+55insACA MANE Plus Clinical	NP_060360.3:n.11467+54_11467+55insACA
NM_152564.5:c.11392+54_11392+55insACA MANE Select	NP_689777.3:n.11392+54_11392+55insACA