Canonical Allele Identifier: CA4824141

Gene: VPS13B

Linked Data

• dbSNP Id: rs778890333
• ExAC: 8:100778981 A / AT
• gnomAD v2: 8-100778981-A-AT
• gnomAD v3: 8-99766753-A-AT
• gnomAD v4: 8-99766753-A-AT
• MyVariant Identifiers: chr8:g.100778982_100778983insT (hg19) ; chr8:g.100778981_100778982insT (hg19) ; chr8:g.99766754_99766755insT (hg38) ; chr8:g.99766753_99766754insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99766761dup , CM000670.2:g.99766761dup	GRCh38
NC_000008.10:g.100778989dup , CM000670.1:g.100778989dup	GRCh37
NC_000008.9:g.100848165dup	NCBI36
NG_007098.2:g.758496dup , LRG_351:g.758496dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7126-13dup	ENSP00000507923.1:n.7126-13dup
ENST00000682358.1:n.7196-13dup
ENST00000683334.1:c.*2808-13dup	ENSP00000507369.1:n.*2808-13dup
ENST00000357162.7:c.7051-13dup MANE Select	ENSP00000349685.2:n.7051-13dup
ENST00000358544.7:c.7126-13dup MANE Plus Clinical	ENSP00000351346.2:n.7126-13dup
ENST00000357162.6:c.7051-13dup	ENSP00000349685.2:n.7051-13dup
ENST00000358544.6:c.7126-13dup	ENSP00000351346.2:n.7126-13dup
ENST00000518569.1:n.181-13dup
NM_017890.4:c.7126-13dup , LRG_351t1:c.7126-13dup	NP_060360.3:n.7126-13dup
NM_152564.4:c.7051-13dup , LRG_351t2:c.7051-13dup	NP_689777.3:n.7051-13dup
XM_005250800.2:c.7126-13dup	XP_005250857.1:n.7126-13dup
XM_005250801.3:c.7126-13dup	XP_005250858.1:n.7126-13dup
XM_011516848.1:c.7123-13dup	XP_011515150.1:n.7123-13dup
XM_011516849.1:c.7048-13dup	XP_011515151.1:n.7048-13dup
XM_011516850.1:c.6748-13dup	XP_011515152.1:n.6748-13dup
XM_011516851.1:c.4012-13dup	XP_011515153.1:n.4012-13dup
XM_011516852.1:c.4012-13dup	XP_011515154.1:n.4012-13dup
XM_011516853.1:c.7126-13dup	XP_011515155.1:n.7126-13dup
XM_011516854.1:c.2905-13dup	XP_011515156.1:n.2905-13dup
XR_928446.1:n.2065+3934dup
XM_005250800.3:c.7126-13dup	XP_005250857.1:n.7126-13dup
XM_005250801.5:c.7126-13dup	XP_005250858.1:n.7126-13dup
XM_011516848.2:c.7123-13dup	XP_011515150.1:n.7123-13dup
XM_011516849.2:c.7048-13dup	XP_011515151.1:n.7048-13dup
XM_011516850.2:c.6748-13dup	XP_011515152.1:n.6748-13dup
XM_011516851.2:c.4012-13dup	XP_011515153.1:n.4012-13dup
XM_011516852.2:c.4012-13dup	XP_011515154.1:n.4012-13dup
XM_011516853.2:c.7126-13dup	XP_011515155.1:n.7126-13dup
XM_011516854.2:c.2905-13dup	XP_011515156.1:n.2905-13dup
XM_017013109.1:c.6931-13dup	XP_016868598.1:n.6931-13dup
XM_017013111.1:c.4012-13dup	XP_016868600.1:n.4012-13dup
XM_017013112.1:c.2683-13dup	XP_016868601.1:n.2683-13dup
XM_024447074.1:c.5911-13dup	XP_024302842.1:n.5911-13dup
NM_017890.5:c.7126-13dup MANE Plus Clinical	NP_060360.3:n.7126-13dup
NM_152564.5:c.7051-13dup MANE Select	NP_689777.3:n.7051-13dup