Canonical Allele Identifier: CA1805799854
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99556346_99556347delinsGA , CM000670.2:g.99556346_99556347delinsGA GRCh38
NC_000008.10:g.100568574_100568575delinsGA , CM000670.1:g.100568574_100568575delinsGA GRCh37
NC_000008.9:g.100637750_100637751delinsGA NCBI36
NG_007098.2:g.548081_548082delinsGA , LRG_351:g.548081_548082delinsGA

Transcript Alleles

HGVS Amino-acid Change
NM_152564.5:c.4746-104_4746-103delinsGA MANE Select NP_689777.3:n.4746-104_4746-103delinsGA
ENST00000357162.7:c.4746-104_4746-103delinsGA MANE Select ENSP00000349685.2:n.4746-104_4746-103delinsGA
NM_017890.5:c.4821-104_4821-103delinsGA MANE Plus Clinical NP_060360.3:n.4821-104_4821-103delinsGA
ENST00000358544.7:c.4821-104_4821-103delinsGA MANE Plus Clinical ENSP00000351346.2:n.4821-104_4821-103delinsGA
NM_017890.4:c.4821-104_4821-103delinsGA , LRG_351t1:c.4821-104_4821-103delinsGA NP_060360.3:n.4821-104_4821-103delinsGA
NM_152564.4:c.4746-104_4746-103delinsGA , LRG_351t2:c.4746-104_4746-103delinsGA NP_689777.3:n.4746-104_4746-103delinsGA
ENST00000357162.6:c.4746-104_4746-103delinsGA ENSP00000349685.2:n.4746-104_4746-103delinsGA
ENST00000358544.6:c.4821-104_4821-103delinsGA ENSP00000351346.2:n.4821-104_4821-103delinsGA
ENST00000496144.5:c.*604-104_*604-103delinsGA ENSP00000430900.1:n.*604-104_*604-103delinsGA
ENST00000521559.1:c.113-19312_113-19311delinsGA
ENST00000682153.1:c.4821-104_4821-103delinsGA ENSP00000507923.1:n.4821-104_4821-103delinsGA
ENST00000682358.1:n.4891-104_4891-103delinsGA
ENST00000683334.1:c.*503-104_*503-103delinsGA ENSP00000507369.1:n.*503-104_*503-103delinsGA
XM_005250800.2:c.4821-104_4821-103delinsGA XP_005250857.1:n.4821-104_4821-103delinsGA
XM_005250800.3:c.4821-104_4821-103delinsGA XP_005250857.1:n.4821-104_4821-103delinsGA
XM_005250801.3:c.4821-104_4821-103delinsGA XP_005250858.1:n.4821-104_4821-103delinsGA
XM_005250801.5:c.4821-104_4821-103delinsGA XP_005250858.1:n.4821-104_4821-103delinsGA
XM_006716510.2:c.4821-104_4821-103delinsGA XP_006716573.1:n.4821-104_4821-103delinsGA
XM_006716510.3:c.4821-104_4821-103delinsGA XP_006716573.1:n.4821-104_4821-103delinsGA
XM_011516848.1:c.4818-104_4818-103delinsGA XP_011515150.1:n.4818-104_4818-103delinsGA
XM_011516848.2:c.4818-104_4818-103delinsGA XP_011515150.1:n.4818-104_4818-103delinsGA
XM_011516849.1:c.4743-104_4743-103delinsGA XP_011515151.1:n.4743-104_4743-103delinsGA
XM_011516849.2:c.4743-104_4743-103delinsGA XP_011515151.1:n.4743-104_4743-103delinsGA
XM_011516850.1:c.4443-104_4443-103delinsGA XP_011515152.1:n.4443-104_4443-103delinsGA
XM_011516850.2:c.4443-104_4443-103delinsGA XP_011515152.1:n.4443-104_4443-103delinsGA
XM_011516851.1:c.1707-104_1707-103delinsGA XP_011515153.1:n.1707-104_1707-103delinsGA
XM_011516851.2:c.1707-104_1707-103delinsGA XP_011515153.1:n.1707-104_1707-103delinsGA
XM_011516852.1:c.1707-104_1707-103delinsGA XP_011515154.1:n.1707-104_1707-103delinsGA
XM_011516852.2:c.1707-104_1707-103delinsGA XP_011515154.1:n.1707-104_1707-103delinsGA
XM_011516853.1:c.4821-104_4821-103delinsGA XP_011515155.1:n.4821-104_4821-103delinsGA
XM_011516853.2:c.4821-104_4821-103delinsGA XP_011515155.1:n.4821-104_4821-103delinsGA
XM_011516854.1:c.600-104_600-103delinsGA XP_011515156.1:n.600-104_600-103delinsGA
XM_011516854.2:c.600-104_600-103delinsGA XP_011515156.1:n.600-104_600-103delinsGA
XM_017013109.1:c.4626-104_4626-103delinsGA XP_016868598.1:n.4626-104_4626-103delinsGA
XM_017013111.1:c.1707-104_1707-103delinsGA XP_016868600.1:n.1707-104_1707-103delinsGA
XM_017013112.1:c.378-104_378-103delinsGA XP_016868601.1:n.378-104_378-103delinsGA
XM_024447074.1:c.3606-104_3606-103delinsGA XP_024302842.1:n.3606-104_3606-103delinsGA
XR_001745482.2:n.4782-104_4782-103delinsGA
XR_928301.1:n.4924-104_4924-103delinsGA
XR_928302.1:n.4924-104_4924-103delinsGA
XR_928302.2:n.4924-104_4924-103delinsGA
XR_928303.1:n.4924-104_4924-103delinsGA
XR_928304.1:n.4991-104_4991-103delinsGA