Canonical Allele Identifier: CA2688071608

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99861706-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99861706C>G , CM000670.2:g.99861706C>G	GRCh38
NC_000008.10:g.100873934C>G , CM000670.1:g.100873934C>G	GRCh37
NC_000008.9:g.100943110C>G	NCBI36
NG_007098.2:g.853441C>G , LRG_351:g.853441C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000682153.1:c.*214-70C>G	ENSP00000507923.1:n.*214-70C>G
ENST00000682358.1:n.11190-70C>G
ENST00000683334.1:c.*6802-70C>G	ENSP00000507369.1:n.*6802-70C>G
ENST00000357162.7:c.11045-70C>G MANE Select	ENSP00000349685.2:n.11045-70C>G
ENST00000358544.7:c.11120-70C>G MANE Plus Clinical	ENSP00000351346.2:n.11120-70C>G
ENST00000357162.6:c.11045-70C>G	ENSP00000349685.2:n.11045-70C>G
ENST00000358544.6:c.11120-70C>G	ENSP00000351346.2:n.11120-70C>G
NM_017890.4:c.11120-70C>G , LRG_351t1:c.11120-70C>G	NP_060360.3:n.11120-70C>G
NM_152564.4:c.11045-70C>G , LRG_351t2:c.11045-70C>G	NP_689777.3:n.11045-70C>G
XM_005250800.2:c.11120-70C>G	XP_005250857.1:n.11120-70C>G
XM_005250801.3:c.11120-70C>G	XP_005250858.1:n.11120-70C>G
XM_011516848.1:c.11117-70C>G	XP_011515150.1:n.11117-70C>G
XM_011516849.1:c.11042-70C>G	XP_011515151.1:n.11042-70C>G
XM_011516850.1:c.10742-70C>G	XP_011515152.1:n.10742-70C>G
XM_011516851.1:c.8006-70C>G	XP_011515153.1:n.8006-70C>G
XM_011516852.1:c.8006-70C>G	XP_011515154.1:n.8006-70C>G
XM_011516854.1:c.6899-70C>G	XP_011515156.1:n.6899-70C>G
XM_005250800.3:c.11120-70C>G	XP_005250857.1:n.11120-70C>G
XM_005250801.5:c.11120-70C>G	XP_005250858.1:n.11120-70C>G
XM_011516848.2:c.11117-70C>G	XP_011515150.1:n.11117-70C>G
XM_011516849.2:c.11042-70C>G	XP_011515151.1:n.11042-70C>G
XM_011516850.2:c.10742-70C>G	XP_011515152.1:n.10742-70C>G
XM_011516851.2:c.8006-70C>G	XP_011515153.1:n.8006-70C>G
XM_011516852.2:c.8006-70C>G	XP_011515154.1:n.8006-70C>G
XM_011516854.2:c.6899-70C>G	XP_011515156.1:n.6899-70C>G
XM_017013109.1:c.10925-70C>G	XP_016868598.1:n.10925-70C>G
XM_017013111.1:c.8006-70C>G	XP_016868600.1:n.8006-70C>G
XM_017013112.1:c.6677-70C>G	XP_016868601.1:n.6677-70C>G
XM_024447074.1:c.9905-70C>G	XP_024302842.1:n.9905-70C>G
NM_017890.5:c.11120-70C>G MANE Plus Clinical	NP_060360.3:n.11120-70C>G
NM_152564.5:c.11045-70C>G MANE Select	NP_689777.3:n.11045-70C>G