Canonical Allele Identifier: CA2781481412

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868524_99868525insACA , CM000670.2:g.99868524_99868525insACA	GRCh38
NC_000008.10:g.100880752_100880753insACA , CM000670.1:g.100880752_100880753insACA	GRCh37
NC_000008.9:g.100949928_100949929insACA	NCBI36
NG_007098.2:g.860259_860260insACA , LRG_351:g.860259_860260insACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+59_*561+60insACA	ENSP00000507923.1:n.*561+59_*561+60insACA
ENST00000682358.1:n.11537+59_11537+60insACA
ENST00000683334.1:c.*7149+59_*7149+60insACA	ENSP00000507369.1:n.*7149+59_*7149+60insACA
ENST00000357162.7:c.11392+59_11392+60insACA MANE Select	ENSP00000349685.2:n.11392+59_11392+60insACA
ENST00000358544.7:c.11467+59_11467+60insACA MANE Plus Clinical	ENSP00000351346.2:n.11467+59_11467+60insACA
ENST00000357162.6:c.11392+59_11392+60insACA	ENSP00000349685.2:n.11392+59_11392+60insACA
ENST00000358544.6:c.11467+59_11467+60insACA	ENSP00000351346.2:n.11467+59_11467+60insACA
ENST00000493587.1:n.409+59_409+60insACA
NM_017890.4:c.11467+59_11467+60insACA , LRG_351t1:c.11467+59_11467+60insACA	NP_060360.3:n.11467+59_11467+60insACA
NM_152564.4:c.11392+59_11392+60insACA , LRG_351t2:c.11392+59_11392+60insACA	NP_689777.3:n.11392+59_11392+60insACA
XM_005250800.2:c.11467+59_11467+60insACA	XP_005250857.1:n.11467+59_11467+60insACA
XM_005250801.3:c.11467+59_11467+60insACA	XP_005250858.1:n.11467+59_11467+60insACA
XM_011516848.1:c.11464+59_11464+60insACA	XP_011515150.1:n.11464+59_11464+60insACA
XM_011516849.1:c.11389+59_11389+60insACA	XP_011515151.1:n.11389+59_11389+60insACA
XM_011516850.1:c.11089+59_11089+60insACA	XP_011515152.1:n.11089+59_11089+60insACA
XM_011516851.1:c.8353+59_8353+60insACA	XP_011515153.1:n.8353+59_8353+60insACA
XM_011516852.1:c.8353+59_8353+60insACA	XP_011515154.1:n.8353+59_8353+60insACA
XM_011516854.1:c.7246+59_7246+60insACA	XP_011515156.1:n.7246+59_7246+60insACA
XM_005250800.3:c.11467+59_11467+60insACA	XP_005250857.1:n.11467+59_11467+60insACA
XM_005250801.5:c.11467+59_11467+60insACA	XP_005250858.1:n.11467+59_11467+60insACA
XM_011516848.2:c.11464+59_11464+60insACA	XP_011515150.1:n.11464+59_11464+60insACA
XM_011516849.2:c.11389+59_11389+60insACA	XP_011515151.1:n.11389+59_11389+60insACA
XM_011516850.2:c.11089+59_11089+60insACA	XP_011515152.1:n.11089+59_11089+60insACA
XM_011516851.2:c.8353+59_8353+60insACA	XP_011515153.1:n.8353+59_8353+60insACA
XM_011516852.2:c.8353+59_8353+60insACA	XP_011515154.1:n.8353+59_8353+60insACA
XM_011516854.2:c.7246+59_7246+60insACA	XP_011515156.1:n.7246+59_7246+60insACA
XM_017013109.1:c.11272+59_11272+60insACA	XP_016868598.1:n.11272+59_11272+60insACA
XM_017013111.1:c.8353+59_8353+60insACA	XP_016868600.1:n.8353+59_8353+60insACA
XM_017013112.1:c.7024+59_7024+60insACA	XP_016868601.1:n.7024+59_7024+60insACA
XM_024447074.1:c.10252+59_10252+60insACA	XP_024302842.1:n.10252+59_10252+60insACA
NM_017890.5:c.11467+59_11467+60insACA MANE Plus Clinical	NP_060360.3:n.11467+59_11467+60insACA
NM_152564.5:c.11392+59_11392+60insACA MANE Select	NP_689777.3:n.11392+59_11392+60insACA