Canonical Allele Identifier: CA2781481457

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868578_99868579insA , CM000670.2:g.99868578_99868579insA	GRCh38
NC_000008.10:g.100880806_100880807insA , CM000670.1:g.100880806_100880807insA	GRCh37
NC_000008.9:g.100949982_100949983insA	NCBI36
NG_007098.2:g.860313_860314insA , LRG_351:g.860313_860314insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+113_*561+114insA	ENSP00000507923.1:n.*561+113_*561+114insA
ENST00000682358.1:n.11537+113_11537+114insA
ENST00000683334.1:c.*7149+113_*7149+114insA	ENSP00000507369.1:n.*7149+113_*7149+114insA
ENST00000357162.7:c.11392+113_11392+114insA MANE Select	ENSP00000349685.2:n.11392+113_11392+114insA
ENST00000358544.7:c.11467+113_11467+114insA MANE Plus Clinical	ENSP00000351346.2:n.11467+113_11467+114insA
ENST00000357162.6:c.11392+113_11392+114insA	ENSP00000349685.2:n.11392+113_11392+114insA
ENST00000358544.6:c.11467+113_11467+114insA	ENSP00000351346.2:n.11467+113_11467+114insA
ENST00000493587.1:n.409+113_409+114insA
NM_017890.4:c.11467+113_11467+114insA , LRG_351t1:c.11467+113_11467+114insA	NP_060360.3:n.11467+113_11467+114insA
NM_152564.4:c.11392+113_11392+114insA , LRG_351t2:c.11392+113_11392+114insA	NP_689777.3:n.11392+113_11392+114insA
XM_005250800.2:c.11467+113_11467+114insA	XP_005250857.1:n.11467+113_11467+114insA
XM_005250801.3:c.11467+113_11467+114insA	XP_005250858.1:n.11467+113_11467+114insA
XM_011516848.1:c.11464+113_11464+114insA	XP_011515150.1:n.11464+113_11464+114insA
XM_011516849.1:c.11389+113_11389+114insA	XP_011515151.1:n.11389+113_11389+114insA
XM_011516850.1:c.11089+113_11089+114insA	XP_011515152.1:n.11089+113_11089+114insA
XM_011516851.1:c.8353+113_8353+114insA	XP_011515153.1:n.8353+113_8353+114insA
XM_011516852.1:c.8353+113_8353+114insA	XP_011515154.1:n.8353+113_8353+114insA
XM_011516854.1:c.7246+113_7246+114insA	XP_011515156.1:n.7246+113_7246+114insA
XM_005250800.3:c.11467+113_11467+114insA	XP_005250857.1:n.11467+113_11467+114insA
XM_005250801.5:c.11467+113_11467+114insA	XP_005250858.1:n.11467+113_11467+114insA
XM_011516848.2:c.11464+113_11464+114insA	XP_011515150.1:n.11464+113_11464+114insA
XM_011516849.2:c.11389+113_11389+114insA	XP_011515151.1:n.11389+113_11389+114insA
XM_011516850.2:c.11089+113_11089+114insA	XP_011515152.1:n.11089+113_11089+114insA
XM_011516851.2:c.8353+113_8353+114insA	XP_011515153.1:n.8353+113_8353+114insA
XM_011516852.2:c.8353+113_8353+114insA	XP_011515154.1:n.8353+113_8353+114insA
XM_011516854.2:c.7246+113_7246+114insA	XP_011515156.1:n.7246+113_7246+114insA
XM_017013109.1:c.11272+113_11272+114insA	XP_016868598.1:n.11272+113_11272+114insA
XM_017013111.1:c.8353+113_8353+114insA	XP_016868600.1:n.8353+113_8353+114insA
XM_017013112.1:c.7024+113_7024+114insA	XP_016868601.1:n.7024+113_7024+114insA
XM_024447074.1:c.10252+113_10252+114insA	XP_024302842.1:n.10252+113_10252+114insA
NM_017890.5:c.11467+113_11467+114insA MANE Plus Clinical	NP_060360.3:n.11467+113_11467+114insA
NM_152564.5:c.11392+113_11392+114insA MANE Select	NP_689777.3:n.11392+113_11392+114insA