Canonical Allele Identifier: CA2781481379

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868445_99868446insACAC , CM000670.2:g.99868445_99868446insACAC	GRCh38
NC_000008.10:g.100880673_100880674insACAC , CM000670.1:g.100880673_100880674insACAC	GRCh37
NC_000008.9:g.100949849_100949850insACAC	NCBI36
NG_007098.2:g.860180_860181insACAC , LRG_351:g.860180_860181insACAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*541_*542insACAC	ENSP00000507923.1:n.*541_*542insACAC
ENST00000682358.1:n.11517_11518insACAC
ENST00000683334.1:c.*7129_*7130insACAC	ENSP00000507369.1:n.*7129_*7130insACAC
ENST00000357162.7:c.11372_11373insACAC MANE Select	ENSP00000349685.2:p.Val3792HisfsTer27
ENST00000358544.7:c.11447_11448insACAC MANE Plus Clinical	ENSP00000351346.2:p.Val3817HisfsTer27
ENST00000357162.6:c.11372_11373insACAC	ENSP00000349685.2:p.Val3792HisfsTer27
ENST00000358544.6:c.11447_11448insACAC	ENSP00000351346.2:p.Val3817HisfsTer27
ENST00000493587.1:n.389_390insACAC
NM_017890.4:c.11447_11448insACAC , LRG_351t1:c.11447_11448insACAC	NP_060360.3:p.Val3817HisfsTer27
NM_152564.4:c.11372_11373insACAC , LRG_351t2:c.11372_11373insACAC	NP_689777.3:p.Val3792HisfsTer27
XM_005250800.2:c.11447_11448insACAC	XP_005250857.1:p.Val3817HisfsTer27
XM_005250801.3:c.11447_11448insACAC	XP_005250858.1:p.Val3817HisfsTer27
XM_011516848.1:c.11444_11445insACAC	XP_011515150.1:p.Val3816HisfsTer27
XM_011516849.1:c.11369_11370insACAC	XP_011515151.1:p.Val3791HisfsTer27
XM_011516850.1:c.11069_11070insACAC	XP_011515152.1:p.Val3691HisfsTer27
XM_011516851.1:c.8333_8334insACAC	XP_011515153.1:p.Val2779HisfsTer27
XM_011516852.1:c.8333_8334insACAC	XP_011515154.1:p.Val2779HisfsTer27
XM_011516854.1:c.7226_7227insACAC	XP_011515156.1:p.Val2410HisfsTer27
XM_005250800.3:c.11447_11448insACAC	XP_005250857.1:p.Val3817HisfsTer27
XM_005250801.5:c.11447_11448insACAC	XP_005250858.1:p.Val3817HisfsTer27
XM_011516848.2:c.11444_11445insACAC	XP_011515150.1:p.Val3816HisfsTer27
XM_011516849.2:c.11369_11370insACAC	XP_011515151.1:p.Val3791HisfsTer27
XM_011516850.2:c.11069_11070insACAC	XP_011515152.1:p.Val3691HisfsTer27
XM_011516851.2:c.8333_8334insACAC	XP_011515153.1:p.Val2779HisfsTer27
XM_011516852.2:c.8333_8334insACAC	XP_011515154.1:p.Val2779HisfsTer27
XM_011516854.2:c.7226_7227insACAC	XP_011515156.1:p.Val2410HisfsTer27
XM_017013109.1:c.11252_11253insACAC	XP_016868598.1:p.Val3752HisfsTer27
XM_017013111.1:c.8333_8334insACAC	XP_016868600.1:p.Val2779HisfsTer27
XM_017013112.1:c.7004_7005insACAC	XP_016868601.1:p.Val2336HisfsTer27
XM_024447074.1:c.10232_10233insACAC	XP_024302842.1:p.Val3412HisfsTer27
NM_017890.5:c.11447_11448insACAC MANE Plus Clinical	NP_060360.3:p.Val3817HisfsTer27
NM_152564.5:c.11372_11373insACAC MANE Select	NP_689777.3:p.Val3792HisfsTer27