Canonical Allele Identifier: CA2781481401

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868513_99868514insACA , CM000670.2:g.99868513_99868514insACA	GRCh38
NC_000008.10:g.100880741_100880742insACA , CM000670.1:g.100880741_100880742insACA	GRCh37
NC_000008.9:g.100949917_100949918insACA	NCBI36
NG_007098.2:g.860248_860249insACA , LRG_351:g.860248_860249insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+48_*561+49insACA	ENSP00000507923.1:n.*561+48_*561+49insACA
ENST00000682358.1:n.11537+48_11537+49insACA
ENST00000683334.1:c.*7149+48_*7149+49insACA	ENSP00000507369.1:n.*7149+48_*7149+49insACA
ENST00000357162.7:c.11392+48_11392+49insACA MANE Select	ENSP00000349685.2:n.11392+48_11392+49insACA
ENST00000358544.7:c.11467+48_11467+49insACA MANE Plus Clinical	ENSP00000351346.2:n.11467+48_11467+49insACA
ENST00000357162.6:c.11392+48_11392+49insACA	ENSP00000349685.2:n.11392+48_11392+49insACA
ENST00000358544.6:c.11467+48_11467+49insACA	ENSP00000351346.2:n.11467+48_11467+49insACA
ENST00000493587.1:n.409+48_409+49insACA
NM_017890.4:c.11467+48_11467+49insACA , LRG_351t1:c.11467+48_11467+49insACA	NP_060360.3:n.11467+48_11467+49insACA
NM_152564.4:c.11392+48_11392+49insACA , LRG_351t2:c.11392+48_11392+49insACA	NP_689777.3:n.11392+48_11392+49insACA
XM_005250800.2:c.11467+48_11467+49insACA	XP_005250857.1:n.11467+48_11467+49insACA
XM_005250801.3:c.11467+48_11467+49insACA	XP_005250858.1:n.11467+48_11467+49insACA
XM_011516848.1:c.11464+48_11464+49insACA	XP_011515150.1:n.11464+48_11464+49insACA
XM_011516849.1:c.11389+48_11389+49insACA	XP_011515151.1:n.11389+48_11389+49insACA
XM_011516850.1:c.11089+48_11089+49insACA	XP_011515152.1:n.11089+48_11089+49insACA
XM_011516851.1:c.8353+48_8353+49insACA	XP_011515153.1:n.8353+48_8353+49insACA
XM_011516852.1:c.8353+48_8353+49insACA	XP_011515154.1:n.8353+48_8353+49insACA
XM_011516854.1:c.7246+48_7246+49insACA	XP_011515156.1:n.7246+48_7246+49insACA
XM_005250800.3:c.11467+48_11467+49insACA	XP_005250857.1:n.11467+48_11467+49insACA
XM_005250801.5:c.11467+48_11467+49insACA	XP_005250858.1:n.11467+48_11467+49insACA
XM_011516848.2:c.11464+48_11464+49insACA	XP_011515150.1:n.11464+48_11464+49insACA
XM_011516849.2:c.11389+48_11389+49insACA	XP_011515151.1:n.11389+48_11389+49insACA
XM_011516850.2:c.11089+48_11089+49insACA	XP_011515152.1:n.11089+48_11089+49insACA
XM_011516851.2:c.8353+48_8353+49insACA	XP_011515153.1:n.8353+48_8353+49insACA
XM_011516852.2:c.8353+48_8353+49insACA	XP_011515154.1:n.8353+48_8353+49insACA
XM_011516854.2:c.7246+48_7246+49insACA	XP_011515156.1:n.7246+48_7246+49insACA
XM_017013109.1:c.11272+48_11272+49insACA	XP_016868598.1:n.11272+48_11272+49insACA
XM_017013111.1:c.8353+48_8353+49insACA	XP_016868600.1:n.8353+48_8353+49insACA
XM_017013112.1:c.7024+48_7024+49insACA	XP_016868601.1:n.7024+48_7024+49insACA
XM_024447074.1:c.10252+48_10252+49insACA	XP_024302842.1:n.10252+48_10252+49insACA
NM_017890.5:c.11467+48_11467+49insACA MANE Plus Clinical	NP_060360.3:n.11467+48_11467+49insACA
NM_152564.5:c.11392+48_11392+49insACA MANE Select	NP_689777.3:n.11392+48_11392+49insACA