Canonical Allele Identifier: CA2781476761
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99717381_99717382insA , CM000670.2:g.99717381_99717382insA GRCh38
NC_000008.10:g.100729609_100729610insA , CM000670.1:g.100729609_100729610insA GRCh37
NC_000008.9:g.100798785_100798786insA NCBI36
NG_007098.2:g.709116_709117insA , LRG_351:g.709116_709117insA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.6732+8_6732+9insA ENSP00000507923.1:n.6732+8_6732+9insA
ENST00000682358.1:n.6802+8_6802+9insA
ENST00000683334.1:c.*2414+8_*2414+9insA ENSP00000507369.1:n.*2414+8_*2414+9insA
ENST00000357162.7:c.6657+8_6657+9insA MANE Select ENSP00000349685.2:n.6657+8_6657+9insA
ENST00000358544.7:c.6732+8_6732+9insA MANE Plus Clinical ENSP00000351346.2:n.6732+8_6732+9insA
ENST00000357162.6:c.6657+8_6657+9insA ENSP00000349685.2:n.6657+8_6657+9insA
ENST00000358544.6:c.6732+8_6732+9insA ENSP00000351346.2:n.6732+8_6732+9insA
NM_017890.4:c.6732+8_6732+9insA , LRG_351t1:c.6732+8_6732+9insA NP_060360.3:n.6732+8_6732+9insA
NM_152564.4:c.6657+8_6657+9insA , LRG_351t2:c.6657+8_6657+9insA NP_689777.3:n.6657+8_6657+9insA
XM_005250800.2:c.6732+8_6732+9insA XP_005250857.1:n.6732+8_6732+9insA
XM_005250801.3:c.6732+8_6732+9insA XP_005250858.1:n.6732+8_6732+9insA
XM_011516848.1:c.6729+8_6729+9insA XP_011515150.1:n.6729+8_6729+9insA
XM_011516849.1:c.6654+8_6654+9insA XP_011515151.1:n.6654+8_6654+9insA
XM_011516850.1:c.6354+8_6354+9insA XP_011515152.1:n.6354+8_6354+9insA
XM_011516851.1:c.3618+8_3618+9insA XP_011515153.1:n.3618+8_3618+9insA
XM_011516852.1:c.3618+8_3618+9insA XP_011515154.1:n.3618+8_3618+9insA
XM_011516853.1:c.6732+8_6732+9insA XP_011515155.1:n.6732+8_6732+9insA
XM_011516854.1:c.2511+8_2511+9insA XP_011515156.1:n.2511+8_2511+9insA
XM_005250800.3:c.6732+8_6732+9insA XP_005250857.1:n.6732+8_6732+9insA
XM_005250801.5:c.6732+8_6732+9insA XP_005250858.1:n.6732+8_6732+9insA
XM_011516848.2:c.6729+8_6729+9insA XP_011515150.1:n.6729+8_6729+9insA
XM_011516849.2:c.6654+8_6654+9insA XP_011515151.1:n.6654+8_6654+9insA
XM_011516850.2:c.6354+8_6354+9insA XP_011515152.1:n.6354+8_6354+9insA
XM_011516851.2:c.3618+8_3618+9insA XP_011515153.1:n.3618+8_3618+9insA
XM_011516852.2:c.3618+8_3618+9insA XP_011515154.1:n.3618+8_3618+9insA
XM_011516853.2:c.6732+8_6732+9insA XP_011515155.1:n.6732+8_6732+9insA
XM_011516854.2:c.2511+8_2511+9insA XP_011515156.1:n.2511+8_2511+9insA
XM_017013109.1:c.6537+8_6537+9insA XP_016868598.1:n.6537+8_6537+9insA
XM_017013111.1:c.3618+8_3618+9insA XP_016868600.1:n.3618+8_3618+9insA
XM_017013112.1:c.2289+8_2289+9insA XP_016868601.1:n.2289+8_2289+9insA
XM_024447074.1:c.5517+8_5517+9insA XP_024302842.1:n.5517+8_5517+9insA
NM_017890.5:c.6732+8_6732+9insA MANE Plus Clinical NP_060360.3:n.6732+8_6732+9insA
NM_152564.5:c.6657+8_6657+9insA MANE Select NP_689777.3:n.6657+8_6657+9insA