Canonical Allele Identifier: CA2781481411
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868523_99868524insACT , CM000670.2:g.99868523_99868524insACT GRCh38
NC_000008.10:g.100880751_100880752insACT , CM000670.1:g.100880751_100880752insACT GRCh37
NC_000008.9:g.100949927_100949928insACT NCBI36
NG_007098.2:g.860258_860259insACT , LRG_351:g.860258_860259insACT

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*561+58_*561+59insACT ENSP00000507923.1:n.*561+58_*561+59insACT
ENST00000682358.1:n.11537+58_11537+59insACT
ENST00000683334.1:c.*7149+58_*7149+59insACT ENSP00000507369.1:n.*7149+58_*7149+59insACT
ENST00000357162.7:c.11392+58_11392+59insACT MANE Select ENSP00000349685.2:n.11392+58_11392+59insACT
ENST00000358544.7:c.11467+58_11467+59insACT MANE Plus Clinical ENSP00000351346.2:n.11467+58_11467+59insACT
ENST00000357162.6:c.11392+58_11392+59insACT ENSP00000349685.2:n.11392+58_11392+59insACT
ENST00000358544.6:c.11467+58_11467+59insACT ENSP00000351346.2:n.11467+58_11467+59insACT
ENST00000493587.1:n.409+58_409+59insACT
NM_017890.4:c.11467+58_11467+59insACT , LRG_351t1:c.11467+58_11467+59insACT NP_060360.3:n.11467+58_11467+59insACT
NM_152564.4:c.11392+58_11392+59insACT , LRG_351t2:c.11392+58_11392+59insACT NP_689777.3:n.11392+58_11392+59insACT
XM_005250800.2:c.11467+58_11467+59insACT XP_005250857.1:n.11467+58_11467+59insACT
XM_005250801.3:c.11467+58_11467+59insACT XP_005250858.1:n.11467+58_11467+59insACT
XM_011516848.1:c.11464+58_11464+59insACT XP_011515150.1:n.11464+58_11464+59insACT
XM_011516849.1:c.11389+58_11389+59insACT XP_011515151.1:n.11389+58_11389+59insACT
XM_011516850.1:c.11089+58_11089+59insACT XP_011515152.1:n.11089+58_11089+59insACT
XM_011516851.1:c.8353+58_8353+59insACT XP_011515153.1:n.8353+58_8353+59insACT
XM_011516852.1:c.8353+58_8353+59insACT XP_011515154.1:n.8353+58_8353+59insACT
XM_011516854.1:c.7246+58_7246+59insACT XP_011515156.1:n.7246+58_7246+59insACT
XM_005250800.3:c.11467+58_11467+59insACT XP_005250857.1:n.11467+58_11467+59insACT
XM_005250801.5:c.11467+58_11467+59insACT XP_005250858.1:n.11467+58_11467+59insACT
XM_011516848.2:c.11464+58_11464+59insACT XP_011515150.1:n.11464+58_11464+59insACT
XM_011516849.2:c.11389+58_11389+59insACT XP_011515151.1:n.11389+58_11389+59insACT
XM_011516850.2:c.11089+58_11089+59insACT XP_011515152.1:n.11089+58_11089+59insACT
XM_011516851.2:c.8353+58_8353+59insACT XP_011515153.1:n.8353+58_8353+59insACT
XM_011516852.2:c.8353+58_8353+59insACT XP_011515154.1:n.8353+58_8353+59insACT
XM_011516854.2:c.7246+58_7246+59insACT XP_011515156.1:n.7246+58_7246+59insACT
XM_017013109.1:c.11272+58_11272+59insACT XP_016868598.1:n.11272+58_11272+59insACT
XM_017013111.1:c.8353+58_8353+59insACT XP_016868600.1:n.8353+58_8353+59insACT
XM_017013112.1:c.7024+58_7024+59insACT XP_016868601.1:n.7024+58_7024+59insACT
XM_024447074.1:c.10252+58_10252+59insACT XP_024302842.1:n.10252+58_10252+59insACT
NM_017890.5:c.11467+58_11467+59insACT MANE Plus Clinical NP_060360.3:n.11467+58_11467+59insACT
NM_152564.5:c.11392+58_11392+59insACT MANE Select NP_689777.3:n.11392+58_11392+59insACT