Canonical Allele Identifier: CA583861169

Gene: VPS13B

Linked Data

• dbSNP Id: rs1294709066
• gnomAD v2: 8-100874037-GC-G
• gnomAD v4: 8-99861809-GC-G
• MyVariant Identifiers: chr8:g.100874038del (hg19) ; chr8:g.99861810del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861811del , CM000670.2:g.99861811del	GRCh38
NC_000008.10:g.100874039del , CM000670.1:g.100874039del	GRCh37
NC_000008.9:g.100943215del	NCBI36
NG_007098.2:g.853546del , LRG_351:g.853546del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*249del	ENSP00000507923.1:n.*249del
ENST00000682358.1:n.11225del
ENST00000683334.1:c.*6837del	ENSP00000507369.1:n.*6837del
ENST00000357162.7:c.11080del MANE Select	ENSP00000349685.2:p.Leu3694TrpfsTer?
ENST00000358544.7:c.11155del MANE Plus Clinical	ENSP00000351346.2:p.Leu3719TrpfsTer?
ENST00000357162.6:c.11080del	ENSP00000349685.2:p.Leu3694TrpfsTer?
ENST00000358544.6:c.11155del	ENSP00000351346.2:p.Leu3719TrpfsTer?
NM_017890.4:c.11155del , LRG_351t1:c.11155del	NP_060360.3:p.Leu3719TrpfsTer?
NM_152564.4:c.11080del , LRG_351t2:c.11080del	NP_689777.3:p.Leu3694TrpfsTer?
XM_005250800.2:c.11155del	XP_005250857.1:p.Leu3719TrpfsTer?
XM_005250801.3:c.11155del	XP_005250858.1:p.Leu3719TrpfsTer?
XM_011516848.1:c.11152del	XP_011515150.1:p.Leu3718TrpfsTer?
XM_011516849.1:c.11077del	XP_011515151.1:p.Leu3693TrpfsTer?
XM_011516850.1:c.10777del	XP_011515152.1:p.Leu3593TrpfsTer?
XM_011516851.1:c.8041del	XP_011515153.1:p.Leu2681TrpfsTer?
XM_011516852.1:c.8041del	XP_011515154.1:p.Leu2681TrpfsTer?
XM_011516854.1:c.6934del	XP_011515156.1:p.Leu2312TrpfsTer?
XM_005250800.3:c.11155del	XP_005250857.1:p.Leu3719TrpfsTer?
XM_005250801.5:c.11155del	XP_005250858.1:p.Leu3719TrpfsTer?
XM_011516848.2:c.11152del	XP_011515150.1:p.Leu3718TrpfsTer?
XM_011516849.2:c.11077del	XP_011515151.1:p.Leu3693TrpfsTer?
XM_011516850.2:c.10777del	XP_011515152.1:p.Leu3593TrpfsTer?
XM_011516851.2:c.8041del	XP_011515153.1:p.Leu2681TrpfsTer?
XM_011516852.2:c.8041del	XP_011515154.1:p.Leu2681TrpfsTer?
XM_011516854.2:c.6934del	XP_011515156.1:p.Leu2312TrpfsTer?
XM_017013109.1:c.10960del	XP_016868598.1:p.Leu3654TrpfsTer?
XM_017013111.1:c.8041del	XP_016868600.1:p.Leu2681TrpfsTer?
XM_017013112.1:c.6712del	XP_016868601.1:p.Leu2238TrpfsTer?
XM_024447074.1:c.9940del	XP_024302842.1:p.Leu3314TrpfsTer?
NM_017890.5:c.11155del MANE Plus Clinical	NP_060360.3:p.Leu3719TrpfsTer?
NM_152564.5:c.11080del MANE Select	NP_689777.3:p.Leu3694TrpfsTer?