Canonical Allele Identifier: CA915946659

Gene: VPS13B

Linked Data

• ClinVar Variation Id: 556489
• ClinVar RCV Id: RCV000672503
• dbSNP Id: rs1554952465

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776838_99776839insAGGCA , CM000670.2:g.99776838_99776839insAGGCA	GRCh38
NC_000008.10:g.100789066_100789067insAGGCA , CM000670.1:g.100789066_100789067insAGGCA	GRCh37
NC_000008.9:g.100858242_100858243insAGGCA	NCBI36
NG_007098.2:g.768573_768574insAGGCA , LRG_351:g.768573_768574insAGGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7386_7387insAGGCA	ENSP00000507923.1:p.Ala2463ArgfsTer?
ENST00000682358.1:n.7456_7457insAGGCA
ENST00000683334.1:c.*3068_*3069insAGGCA	ENSP00000507369.1:n.*3068_*3069insAGGCA
ENST00000357162.7:c.7311_7312insAGGCA MANE Select	ENSP00000349685.2:p.Ala2438ArgfsTer?
ENST00000358544.7:c.7386_7387insAGGCA MANE Plus Clinical	ENSP00000351346.2:p.Ala2463ArgfsTer?
ENST00000357162.6:c.7311_7312insAGGCA	ENSP00000349685.2:p.Ala2438ArgfsTer?
ENST00000358544.6:c.7386_7387insAGGCA	ENSP00000351346.2:p.Ala2463ArgfsTer?
ENST00000518569.1:n.378-1844_378-1843insAGGCA
NM_017890.4:c.7386_7387insAGGCA , LRG_351t1:c.7386_7387insAGGCA	NP_060360.3:p.Ala2463ArgfsTer?
NM_152564.4:c.7311_7312insAGGCA , LRG_351t2:c.7311_7312insAGGCA	NP_689777.3:p.Ala2438ArgfsTer?
XM_005250800.2:c.7386_7387insAGGCA	XP_005250857.1:p.Ala2463ArgfsTer?
XM_005250801.3:c.7386_7387insAGGCA	XP_005250858.1:p.Ala2463ArgfsTer?
XM_011516848.1:c.7383_7384insAGGCA	XP_011515150.1:p.Ala2462ArgfsTer?
XM_011516849.1:c.7308_7309insAGGCA	XP_011515151.1:p.Ala2437ArgfsTer?
XM_011516850.1:c.7008_7009insAGGCA	XP_011515152.1:p.Ala2337ArgfsTer?
XM_011516851.1:c.4272_4273insAGGCA	XP_011515153.1:p.Ala1425ArgfsTer?
XM_011516852.1:c.4272_4273insAGGCA	XP_011515154.1:p.Ala1425ArgfsTer?
XM_011516853.1:c.7386_7387insAGGCA	XP_011515155.1:p.Ala2463ArgfsTer?
XM_011516854.1:c.3165_3166insAGGCA	XP_011515156.1:p.Ala1056ArgfsTer?
XR_928446.1:n.1830+5639_1830+5640insTGCCT
XM_005250800.3:c.7386_7387insAGGCA	XP_005250857.1:p.Ala2463ArgfsTer?
XM_005250801.5:c.7386_7387insAGGCA	XP_005250858.1:p.Ala2463ArgfsTer?
XM_011516848.2:c.7383_7384insAGGCA	XP_011515150.1:p.Ala2462ArgfsTer?
XM_011516849.2:c.7308_7309insAGGCA	XP_011515151.1:p.Ala2437ArgfsTer?
XM_011516850.2:c.7008_7009insAGGCA	XP_011515152.1:p.Ala2337ArgfsTer?
XM_011516851.2:c.4272_4273insAGGCA	XP_011515153.1:p.Ala1425ArgfsTer?
XM_011516852.2:c.4272_4273insAGGCA	XP_011515154.1:p.Ala1425ArgfsTer?
XM_011516853.2:c.7386_7387insAGGCA	XP_011515155.1:p.Ala2463ArgfsTer?
XM_011516854.2:c.3165_3166insAGGCA	XP_011515156.1:p.Ala1056ArgfsTer?
XM_017013109.1:c.7191_7192insAGGCA	XP_016868598.1:p.Ala2398ArgfsTer?
XM_017013111.1:c.4272_4273insAGGCA	XP_016868600.1:p.Ala1425ArgfsTer?
XM_017013112.1:c.2943_2944insAGGCA	XP_016868601.1:p.Ala982ArgfsTer?
XM_024447074.1:c.6171_6172insAGGCA	XP_024302842.1:p.Ala2058ArgfsTer?
NM_017890.5:c.7386_7387insAGGCA MANE Plus Clinical	NP_060360.3:p.Ala2463ArgfsTer?
NM_152564.5:c.7311_7312insAGGCA MANE Select	NP_689777.3:p.Ala2438ArgfsTer?