Canonical Allele Identifier: CA2952429237
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99556338_99556339insACTGGGGCACA , CM000670.2:g.99556338_99556339insACTGGGGCACA GRCh38
NC_000008.10:g.100568566_100568567insACTGGGGCACA , CM000670.1:g.100568566_100568567insACTGGGGCACA GRCh37
NC_000008.9:g.100637742_100637743insACTGGGGCACA NCBI36
NG_007098.2:g.548073_548074insACTGGGGCACA , LRG_351:g.548073_548074insACTGGGGCACA

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.4746-112_4746-111insACTGGGGCACA MANE Select NP_689777.3:n.4746-112_4746-111insACTGGGGCACA
ENST00000357162.7:c.4746-112_4746-111insACTGGGGCACA MANE Select ENSP00000349685.2:n.4746-112_4746-111insACTGGGGCACA
NM_017890.5:c.4821-112_4821-111insACTGGGGCACA MANE Plus Clinical NP_060360.3:n.4821-112_4821-111insACTGGGGCACA
ENST00000358544.7:c.4821-112_4821-111insACTGGGGCACA MANE Plus Clinical ENSP00000351346.2:n.4821-112_4821-111insACTGGGGCACA
NM_017890.4:c.4821-112_4821-111insACTGGGGCACA , LRG_351t1:c.4821-112_4821-111insACTGGGGCACA NP_060360.3:n.4821-112_4821-111insACTGGGGCACA
NM_152564.4:c.4746-112_4746-111insACTGGGGCACA , LRG_351t2:c.4746-112_4746-111insACTGGGGCACA NP_689777.3:n.4746-112_4746-111insACTGGGGCACA
ENST00000357162.6:c.4746-112_4746-111insACTGGGGCACA ENSP00000349685.2:n.4746-112_4746-111insACTGGGGCACA
ENST00000358544.6:c.4821-112_4821-111insACTGGGGCACA ENSP00000351346.2:n.4821-112_4821-111insACTGGGGCACA
ENST00000496144.5:c.*604-112_*604-111insACTGGGGCACA ENSP00000430900.1:n.*604-112_*604-111insACTGGGGCACA
ENST00000521559.1:c.113-19320_113-19319insACTGGGGCACA
ENST00000682153.1:c.4821-112_4821-111insACTGGGGCACA ENSP00000507923.1:n.4821-112_4821-111insACTGGGGCACA
ENST00000682358.1:n.4891-112_4891-111insACTGGGGCACA
ENST00000683334.1:c.*503-112_*503-111insACTGGGGCACA ENSP00000507369.1:n.*503-112_*503-111insACTGGGGCACA
XM_005250800.2:c.4821-112_4821-111insACTGGGGCACA XP_005250857.1:n.4821-112_4821-111insACTGGGGCACA
XM_005250800.3:c.4821-112_4821-111insACTGGGGCACA XP_005250857.1:n.4821-112_4821-111insACTGGGGCACA
XM_005250801.3:c.4821-112_4821-111insACTGGGGCACA XP_005250858.1:n.4821-112_4821-111insACTGGGGCACA
XM_005250801.5:c.4821-112_4821-111insACTGGGGCACA XP_005250858.1:n.4821-112_4821-111insACTGGGGCACA
XM_006716510.2:c.4821-112_4821-111insACTGGGGCACA XP_006716573.1:n.4821-112_4821-111insACTGGGGCACA
XM_006716510.3:c.4821-112_4821-111insACTGGGGCACA XP_006716573.1:n.4821-112_4821-111insACTGGGGCACA
XM_011516848.1:c.4818-112_4818-111insACTGGGGCACA XP_011515150.1:n.4818-112_4818-111insACTGGGGCACA
XM_011516848.2:c.4818-112_4818-111insACTGGGGCACA XP_011515150.1:n.4818-112_4818-111insACTGGGGCACA
XM_011516849.1:c.4743-112_4743-111insACTGGGGCACA XP_011515151.1:n.4743-112_4743-111insACTGGGGCACA
XM_011516849.2:c.4743-112_4743-111insACTGGGGCACA XP_011515151.1:n.4743-112_4743-111insACTGGGGCACA
XM_011516850.1:c.4443-112_4443-111insACTGGGGCACA XP_011515152.1:n.4443-112_4443-111insACTGGGGCACA
XM_011516850.2:c.4443-112_4443-111insACTGGGGCACA XP_011515152.1:n.4443-112_4443-111insACTGGGGCACA
XM_011516851.1:c.1707-112_1707-111insACTGGGGCACA XP_011515153.1:n.1707-112_1707-111insACTGGGGCACA
XM_011516851.2:c.1707-112_1707-111insACTGGGGCACA XP_011515153.1:n.1707-112_1707-111insACTGGGGCACA
XM_011516852.1:c.1707-112_1707-111insACTGGGGCACA XP_011515154.1:n.1707-112_1707-111insACTGGGGCACA
XM_011516852.2:c.1707-112_1707-111insACTGGGGCACA XP_011515154.1:n.1707-112_1707-111insACTGGGGCACA
XM_011516853.1:c.4821-112_4821-111insACTGGGGCACA XP_011515155.1:n.4821-112_4821-111insACTGGGGCACA
XM_011516853.2:c.4821-112_4821-111insACTGGGGCACA XP_011515155.1:n.4821-112_4821-111insACTGGGGCACA
XM_011516854.1:c.600-112_600-111insACTGGGGCACA XP_011515156.1:n.600-112_600-111insACTGGGGCACA
XM_011516854.2:c.600-112_600-111insACTGGGGCACA XP_011515156.1:n.600-112_600-111insACTGGGGCACA
XM_017013109.1:c.4626-112_4626-111insACTGGGGCACA XP_016868598.1:n.4626-112_4626-111insACTGGGGCACA
XM_017013111.1:c.1707-112_1707-111insACTGGGGCACA XP_016868600.1:n.1707-112_1707-111insACTGGGGCACA
XM_017013112.1:c.378-112_378-111insACTGGGGCACA XP_016868601.1:n.378-112_378-111insACTGGGGCACA
XM_024447074.1:c.3606-112_3606-111insACTGGGGCACA XP_024302842.1:n.3606-112_3606-111insACTGGGGCACA
XR_001745482.2:n.4782-112_4782-111insACTGGGGCACA
XR_928301.1:n.4924-112_4924-111insACTGGGGCACA
XR_928302.1:n.4924-112_4924-111insACTGGGGCACA
XR_928302.2:n.4924-112_4924-111insACTGGGGCACA
XR_928303.1:n.4924-112_4924-111insACTGGGGCACA
XR_928304.1:n.4991-112_4991-111insACTGGGGCACA