Canonical Allele Identifier: CA274469

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 189182
• ClinVar RCV Id: RCV002515202
• dbSNP Id: rs386834067
• MyVariant Identifiers: chr8:g.100883885_100883889delinsAGAA (hg19) ; chr8:g.99871657_99871661delinsAGAA (hg38)
• PubMed: PMID:16648375

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99871657_99871661delinsAGAA , CM000670.2:g.99871657_99871661delinsAGAA	GRCh38
NC_000008.10:g.100883885_100883889delinsAGAA , CM000670.1:g.100883885_100883889delinsAGAA	GRCh37
NC_000008.9:g.100953061_100953065delinsAGAA	NCBI36
NG_007098.2:g.863392_863396delinsAGAA , LRG_351:g.863392_863396delinsAGAA

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*1434_*1438delinsAGAA	ENSP00000507923.1:n.*1434_*1438delinsAGAA...
ENST00000682358.1:n.12410_12414delinsAGAA
ENST00000683334.1:c.*7462_*7466delinsAGAA	ENSP00000507369.1:n.*7462_*7466delinsAGAA...
ENST00000357162.7:c.11705_11709delinsAGAA MANE Select	ENSP00000349685.2:p.Thr3902LysfsTer15
ENST00000358544.7:c.11780_11784delinsAGAA MANE Plus Clinical	ENSP00000351346.2:p.Thr3927LysfsTer15
ENST00000357162.6:c.11705_11709delinsAGAA	ENSP00000349685.2:p.Thr3902LysfsTer15
ENST00000358544.6:c.11780_11784delinsAGAA	ENSP00000351346.2:p.Thr3927LysfsTer15
ENST00000493587.1:n.1282_1286delinsAGAA
NM_017890.4:c.11780_11784delinsAGAA , LRG_351t1:c.11780_11784delinsAGAA	NP_060360.3:p.Thr3927LysfsTer15
NM_152564.4:c.11705_11709delinsAGAA , LRG_351t2:c.11705_11709delinsAGAA	NP_689777.3:p.Thr3902LysfsTer15
XM_005250800.2:c.11780_11784delinsAGAA	XP_005250857.1:p.Thr3927LysfsTer15
XM_005250801.3:c.11780_11784delinsAGAA	XP_005250858.1:p.Thr3927LysfsTer15
XM_011516848.1:c.11777_11781delinsAGAA	XP_011515150.1:p.Thr3926LysfsTer15
XM_011516849.1:c.11702_11706delinsAGAA	XP_011515151.1:p.Thr3901LysfsTer15
XM_011516850.1:c.11402_11406delinsAGAA	XP_011515152.1:p.Thr3801LysfsTer15
XM_011516851.1:c.8666_8670delinsAGAA	XP_011515153.1:p.Thr2889LysfsTer15
XM_011516852.1:c.8666_8670delinsAGAA	XP_011515154.1:p.Thr2889LysfsTer15
XM_011516854.1:c.7559_7563delinsAGAA	XP_011515156.1:p.Thr2520LysfsTer15
XM_005250800.3:c.11780_11784delinsAGAA	XP_005250857.1:p.Thr3927LysfsTer15
XM_005250801.5:c.11780_11784delinsAGAA	XP_005250858.1:p.Thr3927LysfsTer15
XM_011516848.2:c.11777_11781delinsAGAA	XP_011515150.1:p.Thr3926LysfsTer15
XM_011516849.2:c.11702_11706delinsAGAA	XP_011515151.1:p.Thr3901LysfsTer15
XM_011516850.2:c.11402_11406delinsAGAA	XP_011515152.1:p.Thr3801LysfsTer15
XM_011516851.2:c.8666_8670delinsAGAA	XP_011515153.1:p.Thr2889LysfsTer15
XM_011516852.2:c.8666_8670delinsAGAA	XP_011515154.1:p.Thr2889LysfsTer15
XM_011516854.2:c.7559_7563delinsAGAA	XP_011515156.1:p.Thr2520LysfsTer15
XM_017013109.1:c.11585_11589delinsAGAA	XP_016868598.1:p.Thr3862LysfsTer15
XM_017013111.1:c.8666_8670delinsAGAA	XP_016868600.1:p.Thr2889LysfsTer15
XM_017013112.1:c.7337_7341delinsAGAA	XP_016868601.1:p.Thr2446LysfsTer15
XM_024447074.1:c.10565_10569delinsAGAA	XP_024302842.1:p.Thr3522LysfsTer15
NM_017890.5:c.11780_11784delinsAGAA MANE Plus Clinical	NP_060360.3:p.Thr3927LysfsTer15
NM_152564.5:c.11705_11709delinsAGAA MANE Select	NP_689777.3:p.Thr3902LysfsTer15