Canonical Allele Identifier: CA857576684

Gene: VPS13B

Linked Data

• dbSNP Id: rs1345403910
• gnomAD v4: 8-99766757-TTTTTA-T
• MyVariant Identifiers: chr8:g.100778986_100778990del (hg19) ; chr8:g.99766758_99766762del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766763_99766767del , CM000670.2:g.99766763_99766767del	GRCh38
NC_000008.10:g.100778991_100778995del , CM000670.1:g.100778991_100778995del	GRCh37
NC_000008.9:g.100848167_100848171del	NCBI36
NG_007098.2:g.758498_758502del , LRG_351:g.758498_758502del

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.7126-11_7126-7del	ENSP00000507923.1:n.7126-11_7126-7del
ENST00000682358.1:n.7196-11_7196-7del
ENST00000683334.1:c.*2808-11_*2808-7del	ENSP00000507369.1:n.*2808-11_*2808-7del
ENST00000357162.7:c.7051-11_7051-7del MANE Select	ENSP00000349685.2:n.7051-11_7051-7del
ENST00000358544.7:c.7126-11_7126-7del MANE Plus Clinical	ENSP00000351346.2:n.7126-11_7126-7del
ENST00000357162.6:c.7051-11_7051-7del	ENSP00000349685.2:n.7051-11_7051-7del
ENST00000358544.6:c.7126-11_7126-7del	ENSP00000351346.2:n.7126-11_7126-7del
ENST00000518569.1:n.181-11_181-7del
NM_017890.4:c.7126-11_7126-7del , LRG_351t1:c.7126-11_7126-7del	NP_060360.3:n.7126-11_7126-7del
NM_152564.4:c.7051-11_7051-7del , LRG_351t2:c.7051-11_7051-7del	NP_689777.3:n.7051-11_7051-7del
XM_005250800.2:c.7126-11_7126-7del	XP_005250857.1:n.7126-11_7126-7del
XM_005250801.3:c.7126-11_7126-7del	XP_005250858.1:n.7126-11_7126-7del
XM_011516848.1:c.7123-11_7123-7del	XP_011515150.1:n.7123-11_7123-7del
XM_011516849.1:c.7048-11_7048-7del	XP_011515151.1:n.7048-11_7048-7del
XM_011516850.1:c.6748-11_6748-7del	XP_011515152.1:n.6748-11_6748-7del
XM_011516851.1:c.4012-11_4012-7del	XP_011515153.1:n.4012-11_4012-7del
XM_011516852.1:c.4012-11_4012-7del	XP_011515154.1:n.4012-11_4012-7del
XM_011516853.1:c.7126-11_7126-7del	XP_011515155.1:n.7126-11_7126-7del
XM_011516854.1:c.2905-11_2905-7del	XP_011515156.1:n.2905-11_2905-7del
XR_928446.1:n.2065+3926_2065+3930del
XM_005250800.3:c.7126-11_7126-7del	XP_005250857.1:n.7126-11_7126-7del
XM_005250801.5:c.7126-11_7126-7del	XP_005250858.1:n.7126-11_7126-7del
XM_011516848.2:c.7123-11_7123-7del	XP_011515150.1:n.7123-11_7123-7del
XM_011516849.2:c.7048-11_7048-7del	XP_011515151.1:n.7048-11_7048-7del
XM_011516850.2:c.6748-11_6748-7del	XP_011515152.1:n.6748-11_6748-7del
XM_011516851.2:c.4012-11_4012-7del	XP_011515153.1:n.4012-11_4012-7del
XM_011516852.2:c.4012-11_4012-7del	XP_011515154.1:n.4012-11_4012-7del
XM_011516853.2:c.7126-11_7126-7del	XP_011515155.1:n.7126-11_7126-7del
XM_011516854.2:c.2905-11_2905-7del	XP_011515156.1:n.2905-11_2905-7del
XM_017013109.1:c.6931-11_6931-7del	XP_016868598.1:n.6931-11_6931-7del
XM_017013111.1:c.4012-11_4012-7del	XP_016868600.1:n.4012-11_4012-7del
XM_017013112.1:c.2683-11_2683-7del	XP_016868601.1:n.2683-11_2683-7del
XM_024447074.1:c.5911-11_5911-7del	XP_024302842.1:n.5911-11_5911-7del
NM_017890.5:c.7126-11_7126-7del MANE Plus Clinical	NP_060360.3:n.7126-11_7126-7del
NM_152564.5:c.7051-11_7051-7del MANE Select	NP_689777.3:n.7051-11_7051-7del