Canonical Allele Identifier: CA1805814855
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99699518_99699524delinsTCTATAG , CM000670.2:g.99699518_99699524delinsTCTATAG GRCh38
NC_000008.10:g.100711746_100711752delinsTCTATAG , CM000670.1:g.100711746_100711752delinsTCTATAG GRCh37
NC_000008.9:g.100780922_100780928delinsTCTATAG NCBI36
NG_007098.2:g.691253_691259delinsTCTATAG , LRG_351:g.691253_691259delinsTCTATAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.6122-7_6122-1delinsTCTATAG ENSP00000507923.1:n.6122-7_6122-1delinsTCTATAG
ENST00000682358.1:n.6192-7_6192-1delinsTCTATAG
ENST00000683334.1:c.*1804-7_*1804-1delinsTCTATAG ENSP00000507369.1:n.*1804-7_*1804-1delinsTCTATAG
ENST00000357162.7:c.6047-7_6047-1delinsTCTATAG MANE Select ENSP00000349685.2:n.6047-7_6047-1delinsTCTATAG
ENST00000358544.7:c.6122-7_6122-1delinsTCTATAG MANE Plus Clinical ENSP00000351346.2:n.6122-7_6122-1delinsTCTATAG
ENST00000357162.6:c.6047-7_6047-1delinsTCTATAG ENSP00000349685.2:n.6047-7_6047-1delinsTCTATAG
ENST00000358544.6:c.6122-7_6122-1delinsTCTATAG ENSP00000351346.2:n.6122-7_6122-1delinsTCTATAG
NM_017890.4:c.6122-7_6122-1delinsTCTATAG , LRG_351t1:c.6122-7_6122-1delinsTCTATAG NP_060360.3:n.6122-7_6122-1delinsTCTATAG
NM_152564.4:c.6047-7_6047-1delinsTCTATAG , LRG_351t2:c.6047-7_6047-1delinsTCTATAG NP_689777.3:n.6047-7_6047-1delinsTCTATAG
XM_005250800.2:c.6122-7_6122-1delinsTCTATAG XP_005250857.1:n.6122-7_6122-1delinsTCTATAG
XM_005250801.3:c.6122-7_6122-1delinsTCTATAG XP_005250858.1:n.6122-7_6122-1delinsTCTATAG
XM_011516848.1:c.6119-7_6119-1delinsTCTATAG XP_011515150.1:n.6119-7_6119-1delinsTCTATAG
XM_011516849.1:c.6044-7_6044-1delinsTCTATAG XP_011515151.1:n.6044-7_6044-1delinsTCTATAG
XM_011516850.1:c.5744-7_5744-1delinsTCTATAG XP_011515152.1:n.5744-7_5744-1delinsTCTATAG
XM_011516851.1:c.3008-7_3008-1delinsTCTATAG XP_011515153.1:n.3008-7_3008-1delinsTCTATAG
XM_011516852.1:c.3008-7_3008-1delinsTCTATAG XP_011515154.1:n.3008-7_3008-1delinsTCTATAG
XM_011516853.1:c.6122-7_6122-1delinsTCTATAG XP_011515155.1:n.6122-7_6122-1delinsTCTATAG
XM_011516854.1:c.1901-7_1901-1delinsTCTATAG XP_011515156.1:n.1901-7_1901-1delinsTCTATAG
XM_005250800.3:c.6122-7_6122-1delinsTCTATAG XP_005250857.1:n.6122-7_6122-1delinsTCTATAG
XM_005250801.5:c.6122-7_6122-1delinsTCTATAG XP_005250858.1:n.6122-7_6122-1delinsTCTATAG
XM_011516848.2:c.6119-7_6119-1delinsTCTATAG XP_011515150.1:n.6119-7_6119-1delinsTCTATAG
XM_011516849.2:c.6044-7_6044-1delinsTCTATAG XP_011515151.1:n.6044-7_6044-1delinsTCTATAG
XM_011516850.2:c.5744-7_5744-1delinsTCTATAG XP_011515152.1:n.5744-7_5744-1delinsTCTATAG
XM_011516851.2:c.3008-7_3008-1delinsTCTATAG XP_011515153.1:n.3008-7_3008-1delinsTCTATAG
XM_011516852.2:c.3008-7_3008-1delinsTCTATAG XP_011515154.1:n.3008-7_3008-1delinsTCTATAG
XM_011516853.2:c.6122-7_6122-1delinsTCTATAG XP_011515155.1:n.6122-7_6122-1delinsTCTATAG
XM_011516854.2:c.1901-7_1901-1delinsTCTATAG XP_011515156.1:n.1901-7_1901-1delinsTCTATAG
XM_017013109.1:c.5927-7_5927-1delinsTCTATAG XP_016868598.1:n.5927-7_5927-1delinsTCTATAG
XM_017013111.1:c.3008-7_3008-1delinsTCTATAG XP_016868600.1:n.3008-7_3008-1delinsTCTATAG
XM_017013112.1:c.1679-7_1679-1delinsTCTATAG XP_016868601.1:n.1679-7_1679-1delinsTCTATAG
XM_024447074.1:c.4907-7_4907-1delinsTCTATAG XP_024302842.1:n.4907-7_4907-1delinsTCTATAG
XR_001745482.2:n.6083-7_6083-1delinsTCTATAG
NM_017890.5:c.6122-7_6122-1delinsTCTATAG MANE Plus Clinical NP_060360.3:n.6122-7_6122-1delinsTCTATAG
NM_152564.5:c.6047-7_6047-1delinsTCTATAG MANE Select NP_689777.3:n.6047-7_6047-1delinsTCTATAG