Canonical Allele Identifier: CA2781481431

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868546_99868563del , CM000670.2:g.99868546_99868563del	GRCh38
NC_000008.10:g.100880774_100880791del , CM000670.1:g.100880774_100880791del	GRCh37
NC_000008.9:g.100949950_100949967del	NCBI36
NG_007098.2:g.860281_860298del , LRG_351:g.860281_860298del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+81_*561+98del	ENSP00000507923.1:n.*561+81_*561+98del
ENST00000682358.1:n.11537+81_11537+98del
ENST00000683334.1:c.*7149+81_*7149+98del	ENSP00000507369.1:n.*7149+81_*7149+98del
ENST00000357162.7:c.11392+81_11392+98del MANE Select	ENSP00000349685.2:n.11392+81_11392+98del
ENST00000358544.7:c.11467+81_11467+98del MANE Plus Clinical	ENSP00000351346.2:n.11467+81_11467+98del
ENST00000357162.6:c.11392+81_11392+98del	ENSP00000349685.2:n.11392+81_11392+98del
ENST00000358544.6:c.11467+81_11467+98del	ENSP00000351346.2:n.11467+81_11467+98del
ENST00000493587.1:n.409+81_409+98del
NM_017890.4:c.11467+81_11467+98del , LRG_351t1:c.11467+81_11467+98del	NP_060360.3:n.11467+81_11467+98del
NM_152564.4:c.11392+81_11392+98del , LRG_351t2:c.11392+81_11392+98del	NP_689777.3:n.11392+81_11392+98del
XM_005250800.2:c.11467+81_11467+98del	XP_005250857.1:n.11467+81_11467+98del
XM_005250801.3:c.11467+81_11467+98del	XP_005250858.1:n.11467+81_11467+98del
XM_011516848.1:c.11464+81_11464+98del	XP_011515150.1:n.11464+81_11464+98del
XM_011516849.1:c.11389+81_11389+98del	XP_011515151.1:n.11389+81_11389+98del
XM_011516850.1:c.11089+81_11089+98del	XP_011515152.1:n.11089+81_11089+98del
XM_011516851.1:c.8353+81_8353+98del	XP_011515153.1:n.8353+81_8353+98del
XM_011516852.1:c.8353+81_8353+98del	XP_011515154.1:n.8353+81_8353+98del
XM_011516854.1:c.7246+81_7246+98del	XP_011515156.1:n.7246+81_7246+98del
XM_005250800.3:c.11467+81_11467+98del	XP_005250857.1:n.11467+81_11467+98del
XM_005250801.5:c.11467+81_11467+98del	XP_005250858.1:n.11467+81_11467+98del
XM_011516848.2:c.11464+81_11464+98del	XP_011515150.1:n.11464+81_11464+98del
XM_011516849.2:c.11389+81_11389+98del	XP_011515151.1:n.11389+81_11389+98del
XM_011516850.2:c.11089+81_11089+98del	XP_011515152.1:n.11089+81_11089+98del
XM_011516851.2:c.8353+81_8353+98del	XP_011515153.1:n.8353+81_8353+98del
XM_011516852.2:c.8353+81_8353+98del	XP_011515154.1:n.8353+81_8353+98del
XM_011516854.2:c.7246+81_7246+98del	XP_011515156.1:n.7246+81_7246+98del
XM_017013109.1:c.11272+81_11272+98del	XP_016868598.1:n.11272+81_11272+98del
XM_017013111.1:c.8353+81_8353+98del	XP_016868600.1:n.8353+81_8353+98del
XM_017013112.1:c.7024+81_7024+98del	XP_016868601.1:n.7024+81_7024+98del
XM_024447074.1:c.10252+81_10252+98del	XP_024302842.1:n.10252+81_10252+98del
NM_017890.5:c.11467+81_11467+98del MANE Plus Clinical	NP_060360.3:n.11467+81_11467+98del
NM_152564.5:c.11392+81_11392+98del MANE Select	NP_689777.3:n.11392+81_11392+98del