Canonical Allele Identifier: CA2688072791

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99868570-G-GCTAT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868573_99868576dup , CM000670.2:g.99868573_99868576dup	GRCh38
NC_000008.10:g.100880801_100880804dup , CM000670.1:g.100880801_100880804dup	GRCh37
NC_000008.9:g.100949977_100949980dup	NCBI36
NG_007098.2:g.860308_860311dup , LRG_351:g.860308_860311dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*561+108_*561+111dup	ENSP00000507923.1:n.*561+108_*561+111dup
ENST00000682358.1:n.11537+108_11537+111dup
ENST00000683334.1:c.*7149+108_*7149+111dup	ENSP00000507369.1:n.*7149+108_*7149+111dup
ENST00000357162.7:c.11392+108_11392+111dup MANE Select	ENSP00000349685.2:n.11392+108_11392+111dup
ENST00000358544.7:c.11467+108_11467+111dup MANE Plus Clinical	ENSP00000351346.2:n.11467+108_11467+111dup
ENST00000357162.6:c.11392+108_11392+111dup	ENSP00000349685.2:n.11392+108_11392+111dup
ENST00000358544.6:c.11467+108_11467+111dup	ENSP00000351346.2:n.11467+108_11467+111dup
ENST00000493587.1:n.409+108_409+111dup
NM_017890.4:c.11467+108_11467+111dup , LRG_351t1:c.11467+108_11467+111dup	NP_060360.3:n.11467+108_11467+111dup
NM_152564.4:c.11392+108_11392+111dup , LRG_351t2:c.11392+108_11392+111dup	NP_689777.3:n.11392+108_11392+111dup
XM_005250800.2:c.11467+108_11467+111dup	XP_005250857.1:n.11467+108_11467+111dup
XM_005250801.3:c.11467+108_11467+111dup	XP_005250858.1:n.11467+108_11467+111dup
XM_011516848.1:c.11464+108_11464+111dup	XP_011515150.1:n.11464+108_11464+111dup
XM_011516849.1:c.11389+108_11389+111dup	XP_011515151.1:n.11389+108_11389+111dup
XM_011516850.1:c.11089+108_11089+111dup	XP_011515152.1:n.11089+108_11089+111dup
XM_011516851.1:c.8353+108_8353+111dup	XP_011515153.1:n.8353+108_8353+111dup
XM_011516852.1:c.8353+108_8353+111dup	XP_011515154.1:n.8353+108_8353+111dup
XM_011516854.1:c.7246+108_7246+111dup	XP_011515156.1:n.7246+108_7246+111dup
XM_005250800.3:c.11467+108_11467+111dup	XP_005250857.1:n.11467+108_11467+111dup
XM_005250801.5:c.11467+108_11467+111dup	XP_005250858.1:n.11467+108_11467+111dup
XM_011516848.2:c.11464+108_11464+111dup	XP_011515150.1:n.11464+108_11464+111dup
XM_011516849.2:c.11389+108_11389+111dup	XP_011515151.1:n.11389+108_11389+111dup
XM_011516850.2:c.11089+108_11089+111dup	XP_011515152.1:n.11089+108_11089+111dup
XM_011516851.2:c.8353+108_8353+111dup	XP_011515153.1:n.8353+108_8353+111dup
XM_011516852.2:c.8353+108_8353+111dup	XP_011515154.1:n.8353+108_8353+111dup
XM_011516854.2:c.7246+108_7246+111dup	XP_011515156.1:n.7246+108_7246+111dup
XM_017013109.1:c.11272+108_11272+111dup	XP_016868598.1:n.11272+108_11272+111dup
XM_017013111.1:c.8353+108_8353+111dup	XP_016868600.1:n.8353+108_8353+111dup
XM_017013112.1:c.7024+108_7024+111dup	XP_016868601.1:n.7024+108_7024+111dup
XM_024447074.1:c.10252+108_10252+111dup	XP_024302842.1:n.10252+108_10252+111dup
NM_017890.5:c.11467+108_11467+111dup MANE Plus Clinical	NP_060360.3:n.11467+108_11467+111dup
NM_152564.5:c.11392+108_11392+111dup MANE Select	NP_689777.3:n.11392+108_11392+111dup