Canonical Allele Identifier: CA2688068075

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99776809-GA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99776810del , CM000670.2:g.99776810del	GRCh38
NC_000008.10:g.100789038del , CM000670.1:g.100789038del	GRCh37
NC_000008.9:g.100858214del	NCBI36
NG_007098.2:g.768545del , LRG_351:g.768545del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.7358del	ENSP00000507923.1:p.Asp2453ValfsTer4
ENST00000682358.1:n.7428del
ENST00000683334.1:c.*3040del	ENSP00000507369.1:n.*3040del
ENST00000357162.7:c.7283del MANE Select	ENSP00000349685.2:p.Asp2428ValfsTer4
ENST00000358544.7:c.7358del MANE Plus Clinical	ENSP00000351346.2:p.Asp2453ValfsTer4
ENST00000357162.6:c.7283del	ENSP00000349685.2:p.Asp2428ValfsTer4
ENST00000358544.6:c.7358del	ENSP00000351346.2:p.Asp2453ValfsTer4
ENST00000518569.1:n.378-1872del
NM_017890.4:c.7358del , LRG_351t1:c.7358del	NP_060360.3:p.Asp2453ValfsTer4
NM_152564.4:c.7283del , LRG_351t2:c.7283del	NP_689777.3:p.Asp2428ValfsTer4
XM_005250800.2:c.7358del	XP_005250857.1:p.Asp2453ValfsTer4
XM_005250801.3:c.7358del	XP_005250858.1:p.Asp2453ValfsTer4
XM_011516848.1:c.7355del	XP_011515150.1:p.Asp2452ValfsTer4
XM_011516849.1:c.7280del	XP_011515151.1:p.Asp2427ValfsTer4
XM_011516850.1:c.6980del	XP_011515152.1:p.Asp2327ValfsTer4
XM_011516851.1:c.4244del	XP_011515153.1:p.Asp1415ValfsTer4
XM_011516852.1:c.4244del	XP_011515154.1:p.Asp1415ValfsTer4
XM_011516853.1:c.7358del	XP_011515155.1:p.Asp2453ValfsTer4
XM_011516854.1:c.3137del	XP_011515156.1:p.Asp1046ValfsTer4
XR_928446.1:n.1830+5668del
XM_005250800.3:c.7358del	XP_005250857.1:p.Asp2453ValfsTer4
XM_005250801.5:c.7358del	XP_005250858.1:p.Asp2453ValfsTer4
XM_011516848.2:c.7355del	XP_011515150.1:p.Asp2452ValfsTer4
XM_011516849.2:c.7280del	XP_011515151.1:p.Asp2427ValfsTer4
XM_011516850.2:c.6980del	XP_011515152.1:p.Asp2327ValfsTer4
XM_011516851.2:c.4244del	XP_011515153.1:p.Asp1415ValfsTer4
XM_011516852.2:c.4244del	XP_011515154.1:p.Asp1415ValfsTer4
XM_011516853.2:c.7358del	XP_011515155.1:p.Asp2453ValfsTer4
XM_011516854.2:c.3137del	XP_011515156.1:p.Asp1046ValfsTer4
XM_017013109.1:c.7163del	XP_016868598.1:p.Asp2388ValfsTer4
XM_017013111.1:c.4244del	XP_016868600.1:p.Asp1415ValfsTer4
XM_017013112.1:c.2915del	XP_016868601.1:p.Asp972ValfsTer4
XM_024447074.1:c.6143del	XP_024302842.1:p.Asp2048ValfsTer4
NM_017890.5:c.7358del MANE Plus Clinical	NP_060360.3:p.Asp2453ValfsTer4
NM_152564.5:c.7283del MANE Select	NP_689777.3:p.Asp2428ValfsTer4