Canonical Allele Identifier: CA2688067881

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99766736-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766736C>A , CM000670.2:g.99766736C>A	GRCh38
NC_000008.10:g.100778964C>A , CM000670.1:g.100778964C>A	GRCh37
NC_000008.9:g.100848140C>A	NCBI36
NG_007098.2:g.758471C>A , LRG_351:g.758471C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7126-38C>A	ENSP00000507923.1:n.7126-38C>A
ENST00000682358.1:n.7196-38C>A
ENST00000683334.1:c.*2808-38C>A	ENSP00000507369.1:n.*2808-38C>A
ENST00000357162.7:c.7051-38C>A MANE Select	ENSP00000349685.2:n.7051-38C>A
ENST00000358544.7:c.7126-38C>A MANE Plus Clinical	ENSP00000351346.2:n.7126-38C>A
ENST00000357162.6:c.7051-38C>A	ENSP00000349685.2:n.7051-38C>A
ENST00000358544.6:c.7126-38C>A	ENSP00000351346.2:n.7126-38C>A
ENST00000518569.1:n.181-38C>A
NM_017890.4:c.7126-38C>A , LRG_351t1:c.7126-38C>A	NP_060360.3:n.7126-38C>A
NM_152564.4:c.7051-38C>A , LRG_351t2:c.7051-38C>A	NP_689777.3:n.7051-38C>A
XM_005250800.2:c.7126-38C>A	XP_005250857.1:n.7126-38C>A
XM_005250801.3:c.7126-38C>A	XP_005250858.1:n.7126-38C>A
XM_011516848.1:c.7123-38C>A	XP_011515150.1:n.7123-38C>A
XM_011516849.1:c.7048-38C>A	XP_011515151.1:n.7048-38C>A
XM_011516850.1:c.6748-38C>A	XP_011515152.1:n.6748-38C>A
XM_011516851.1:c.4012-38C>A	XP_011515153.1:n.4012-38C>A
XM_011516852.1:c.4012-38C>A	XP_011515154.1:n.4012-38C>A
XM_011516853.1:c.7126-38C>A	XP_011515155.1:n.7126-38C>A
XM_011516854.1:c.2905-38C>A	XP_011515156.1:n.2905-38C>A
XR_928446.1:n.2065+3952G>T
XM_005250800.3:c.7126-38C>A	XP_005250857.1:n.7126-38C>A
XM_005250801.5:c.7126-38C>A	XP_005250858.1:n.7126-38C>A
XM_011516848.2:c.7123-38C>A	XP_011515150.1:n.7123-38C>A
XM_011516849.2:c.7048-38C>A	XP_011515151.1:n.7048-38C>A
XM_011516850.2:c.6748-38C>A	XP_011515152.1:n.6748-38C>A
XM_011516851.2:c.4012-38C>A	XP_011515153.1:n.4012-38C>A
XM_011516852.2:c.4012-38C>A	XP_011515154.1:n.4012-38C>A
XM_011516853.2:c.7126-38C>A	XP_011515155.1:n.7126-38C>A
XM_011516854.2:c.2905-38C>A	XP_011515156.1:n.2905-38C>A
XM_017013109.1:c.6931-38C>A	XP_016868598.1:n.6931-38C>A
XM_017013111.1:c.4012-38C>A	XP_016868600.1:n.4012-38C>A
XM_017013112.1:c.2683-38C>A	XP_016868601.1:n.2683-38C>A
XM_024447074.1:c.5911-38C>A	XP_024302842.1:n.5911-38C>A
NM_017890.5:c.7126-38C>A MANE Plus Clinical	NP_060360.3:n.7126-38C>A
NM_152564.5:c.7051-38C>A MANE Select	NP_689777.3:n.7051-38C>A