Canonical Allele Identifier: CA16041233
Gene: VPS13B HGNC NCBI

Linked Data

ClinVar Variation Id: 370875
ClinVar RCV Id: RCV000409159
dbSNP Id: rs1057516834

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99391694_99391695delinsT , CM000670.2:g.99391694_99391695delinsT GRCh38
NC_000008.10:g.100403922_100403923delinsT , CM000670.1:g.100403922_100403923delinsT GRCh37
NC_000008.9:g.100473098_100473099delinsT NCBI36
NG_007098.2:g.383429_383430delinsT , LRG_351:g.383429_383430delinsT

Transcript Alleles

HGVS Amino-acid change
ENST00000355155.6:c.3069_3070delinsT ENSP00000347281.2:p.Lys1023AsnfsTer3
ENST00000682145.1:n.2949_2950delinsT
ENST00000682153.1:c.3072_3073delinsT ENSP00000507923.1:p.Lys1024AsnfsTer3
ENST00000682234.1:c.3072_3073delinsT ENSP00000508225.1:p.Lys1024AsnfsTer3
ENST00000682358.1:n.3142_3143delinsT
ENST00000683334.1:c.3072_3073delinsT ENSP00000507369.1:p.Lys1024AsnfsTer3
ENST00000683486.1:n.3138_3139delinsT
ENST00000683619.1:n.3244_3245delinsT
ENST00000683869.1:n.3153_3154delinsT
ENST00000357162.7:c.3072_3073delinsT MANE Select ENSP00000349685.2:p.Lys1024AsnfsTer3
ENST00000358544.7:c.3072_3073delinsT MANE Plus Clinical ENSP00000351346.2:p.Lys1024AsnfsTer3
ENST00000357162.6:c.3072_3073delinsT ENSP00000349685.2:p.Lys1024AsnfsTer3
ENST00000358544.6:c.3072_3073delinsT ENSP00000351346.2:p.Lys1024AsnfsTer3
ENST00000496144.5:c.3072_3073delinsT ENSP00000430900.1:p.Lys1024AsnfsTer3
ENST00000521037.1:n.243_244delinsT
ENST00000522802.5:n.294_295delinsT
NM_017890.4:c.3072_3073delinsT , LRG_351t1:c.3072_3073delinsT NP_060360.3:p.Lys1024AsnfsTer3
NM_152564.4:c.3072_3073delinsT , LRG_351t2:c.3072_3073delinsT NP_689777.3:p.Lys1024AsnfsTer3
XM_005250800.2:c.3072_3073delinsT XP_005250857.1:p.Lys1024AsnfsTer3
XM_005250801.3:c.3072_3073delinsT XP_005250858.1:p.Lys1024AsnfsTer3
XM_006716510.2:c.3072_3073delinsT XP_006716573.1:p.Lys1024AsnfsTer3
XM_011516848.1:c.3069_3070delinsT XP_011515150.1:p.Lys1023AsnfsTer3
XM_011516849.1:c.3072_3073delinsT XP_011515151.1:p.Lys1024AsnfsTer3
XM_011516850.1:c.2694_2695delinsT XP_011515152.1:p.Lys898AsnfsTer3
XM_011516851.1:c.-59_-58delinsT XP_011515153.1:n.-59_-58delinsT
XM_011516853.1:c.3072_3073delinsT XP_011515155.1:p.Lys1024AsnfsTer3
XM_011516855.1:c.3072_3073delinsT XP_011515157.1:p.Lys1024AsnfsTer3
XM_011516856.1:c.3072_3073delinsT XP_011515158.1:p.Lys1024AsnfsTer3
XM_011516857.1:c.3072_3073delinsT XP_011515159.1:p.Lys1024AsnfsTer3
XM_011516858.1:c.3072_3073delinsT XP_011515160.1:p.Lys1024AsnfsTer3
XM_011516859.1:c.3072_3073delinsT XP_011515161.1:p.Lys1024AsnfsTer3
XM_011516860.1:c.3072_3073delinsT XP_011515162.1:p.Lys1024AsnfsTer3
XM_011516861.1:c.3072_3073delinsT XP_011515163.1:p.Lys1024AsnfsTer3
XR_928301.1:n.3175_3176delinsT
XR_928302.1:n.3175_3176delinsT
XR_928303.1:n.3175_3176delinsT
XR_928304.1:n.3175_3176delinsT
XM_005250800.3:c.3072_3073delinsT XP_005250857.1:p.Lys1024AsnfsTer3
XM_005250801.5:c.3072_3073delinsT XP_005250858.1:p.Lys1024AsnfsTer3
XM_006716510.3:c.3072_3073delinsT XP_006716573.1:p.Lys1024AsnfsTer3
XM_011516848.2:c.3069_3070delinsT XP_011515150.1:p.Lys1023AsnfsTer3
XM_011516849.2:c.3072_3073delinsT XP_011515151.1:p.Lys1024AsnfsTer3
XM_011516850.2:c.2694_2695delinsT XP_011515152.1:p.Lys898AsnfsTer3
XM_011516851.2:c.-59_-58delinsT XP_011515153.1:n.-59_-58delinsT
XM_011516853.2:c.3072_3073delinsT XP_011515155.1:p.Lys1024AsnfsTer3
XM_011516859.2:c.3072_3073delinsT XP_011515161.1:p.Lys1024AsnfsTer3
XM_017013109.1:c.2877_2878delinsT XP_016868598.1:p.Lys959AsnfsTer3
XM_024447074.1:c.1857_1858delinsT XP_024302842.1:p.Lys619AsnfsTer3
XM_024447075.1:c.3072_3073delinsT XP_024302843.1:p.Lys1024AsnfsTer3
XR_001745481.1:n.3175_3176delinsT
XR_001745482.2:n.3175_3176delinsT
XR_001745484.2:n.3175_3176delinsT
XR_002956601.1:n.3172_3173delinsT
XR_002956602.1:n.3175_3176delinsT
XR_928302.2:n.3175_3176delinsT
NM_017890.5:c.3072_3073delinsT MANE Plus Clinical NP_060360.3:p.Lys1024AsnfsTer3
NM_152564.5:c.3072_3073delinsT MANE Select NP_689777.3:p.Lys1024AsnfsTer3