Canonical Allele Identifier: CA16041273
Gene: VPS13B HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371572
ClinVar RCV Id: RCV000412443
dbSNP Id: rs1057517376

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99861893_99861894del , CM000670.2:g.99861893_99861894del GRCh38
NC_000008.10:g.100874121_100874122del , CM000670.1:g.100874121_100874122del GRCh37
NC_000008.9:g.100943297_100943298del NCBI36
NG_007098.2:g.853628_853629del , LRG_351:g.853628_853629del

Transcript Alleles

HGVS Amino-acid change
NM_017890.4:c.11237_11238del , LRG_351t1:c.11237_11238del NP_060360.3:p.Ser3746ThrfsTer25
NM_152564.4:c.11162_11163del , LRG_351t2:c.11162_11163del NP_689777.3:p.Ser3721ThrfsTer25
XM_005250800.2:c.11237_11238del XP_005250857.1:p.Ser3746ThrfsTer25
XM_005250801.3:c.11237_11238del XP_005250858.1:p.Ser3746ThrfsTer25
XM_011516848.1:c.11234_11235del XP_011515150.1:p.Ser3745ThrfsTer25
XM_011516849.1:c.11159_11160del XP_011515151.1:p.Ser3720ThrfsTer25
XM_011516850.1:c.10859_10860del XP_011515152.1:p.Ser3620ThrfsTer25
XM_011516851.1:c.8123_8124del XP_011515153.1:p.Ser2708ThrfsTer25
XM_011516852.1:c.8123_8124del XP_011515154.1:p.Ser2708ThrfsTer25
XM_011516854.1:c.7016_7017del XP_011515156.1:p.Ser2339ThrfsTer25
XM_005250800.3:c.11237_11238del
XM_005250801.5:c.11237_11238del
XM_011516848.2:c.11234_11235del
XM_011516849.2:c.11159_11160del
XM_011516850.2:c.10859_10860del
XM_011516851.2:c.8123_8124del
XM_011516852.2:c.8123_8124del
XM_011516854.2:c.7016_7017del
XM_017013109.1:c.11042_11043del XP_016868598.1:p.Ser3681ThrfsTer25
XM_017013111.1:c.8123_8124del XP_016868600.1:p.Ser2708ThrfsTer25
XM_017013112.1:c.6794_6795del XP_016868601.1:p.Ser2265ThrfsTer25
XM_024447074.1:c.10022_10023del XP_024302842.1:p.Ser3341ThrfsTer25
ENST00000357162.6:c.11162_11163del ENSP00000349685.2:p.Ser3721ThrfsTer25
ENST00000358544.6:c.11237_11238del ENSP00000351346.2:p.Ser3746ThrfsTer25