Canonical Allele Identifier: CA2781481415
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99868529_99868530insACA , CM000670.2:g.99868529_99868530insACA GRCh38
NC_000008.10:g.100880757_100880758insACA , CM000670.1:g.100880757_100880758insACA GRCh37
NC_000008.9:g.100949933_100949934insACA NCBI36
NG_007098.2:g.860264_860265insACA , LRG_351:g.860264_860265insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.*561+64_*561+65insACA ENSP00000507923.1:n.*561+64_*561+65insACA
ENST00000682358.1:n.11537+64_11537+65insACA
ENST00000683334.1:c.*7149+64_*7149+65insACA ENSP00000507369.1:n.*7149+64_*7149+65insACA
ENST00000357162.7:c.11392+64_11392+65insACA MANE Select ENSP00000349685.2:n.11392+64_11392+65insACA
ENST00000358544.7:c.11467+64_11467+65insACA MANE Plus Clinical ENSP00000351346.2:n.11467+64_11467+65insACA
ENST00000357162.6:c.11392+64_11392+65insACA ENSP00000349685.2:n.11392+64_11392+65insACA
ENST00000358544.6:c.11467+64_11467+65insACA ENSP00000351346.2:n.11467+64_11467+65insACA
ENST00000493587.1:n.409+64_409+65insACA
NM_017890.4:c.11467+64_11467+65insACA , LRG_351t1:c.11467+64_11467+65insACA NP_060360.3:n.11467+64_11467+65insACA
NM_152564.4:c.11392+64_11392+65insACA , LRG_351t2:c.11392+64_11392+65insACA NP_689777.3:n.11392+64_11392+65insACA
XM_005250800.2:c.11467+64_11467+65insACA XP_005250857.1:n.11467+64_11467+65insACA
XM_005250801.3:c.11467+64_11467+65insACA XP_005250858.1:n.11467+64_11467+65insACA
XM_011516848.1:c.11464+64_11464+65insACA XP_011515150.1:n.11464+64_11464+65insACA
XM_011516849.1:c.11389+64_11389+65insACA XP_011515151.1:n.11389+64_11389+65insACA
XM_011516850.1:c.11089+64_11089+65insACA XP_011515152.1:n.11089+64_11089+65insACA
XM_011516851.1:c.8353+64_8353+65insACA XP_011515153.1:n.8353+64_8353+65insACA
XM_011516852.1:c.8353+64_8353+65insACA XP_011515154.1:n.8353+64_8353+65insACA
XM_011516854.1:c.7246+64_7246+65insACA XP_011515156.1:n.7246+64_7246+65insACA
XM_005250800.3:c.11467+64_11467+65insACA XP_005250857.1:n.11467+64_11467+65insACA
XM_005250801.5:c.11467+64_11467+65insACA XP_005250858.1:n.11467+64_11467+65insACA
XM_011516848.2:c.11464+64_11464+65insACA XP_011515150.1:n.11464+64_11464+65insACA
XM_011516849.2:c.11389+64_11389+65insACA XP_011515151.1:n.11389+64_11389+65insACA
XM_011516850.2:c.11089+64_11089+65insACA XP_011515152.1:n.11089+64_11089+65insACA
XM_011516851.2:c.8353+64_8353+65insACA XP_011515153.1:n.8353+64_8353+65insACA
XM_011516852.2:c.8353+64_8353+65insACA XP_011515154.1:n.8353+64_8353+65insACA
XM_011516854.2:c.7246+64_7246+65insACA XP_011515156.1:n.7246+64_7246+65insACA
XM_017013109.1:c.11272+64_11272+65insACA XP_016868598.1:n.11272+64_11272+65insACA
XM_017013111.1:c.8353+64_8353+65insACA XP_016868600.1:n.8353+64_8353+65insACA
XM_017013112.1:c.7024+64_7024+65insACA XP_016868601.1:n.7024+64_7024+65insACA
XM_024447074.1:c.10252+64_10252+65insACA XP_024302842.1:n.10252+64_10252+65insACA
NM_017890.5:c.11467+64_11467+65insACA MANE Plus Clinical NP_060360.3:n.11467+64_11467+65insACA
NM_152564.5:c.11392+64_11392+65insACA MANE Select NP_689777.3:n.11392+64_11392+65insACA