Canonical Allele Identifier: CA1117129733

Gene: VPS13B

Linked Data

• gnomAD v3: 8-99868262-C-CAAAAG
• gnomAD v4: 8-99868262-C-CAAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99868262_99868263insAAAAG , CM000670.2:g.99868262_99868263insAAAAG	GRCh38
NC_000008.10:g.100880490_100880491insAAAAG , CM000670.1:g.100880490_100880491insAAAAG	GRCh37
NC_000008.9:g.100949666_100949667insAAAAG	NCBI36
NG_007098.2:g.859997_859998insAAAAG , LRG_351:g.859997_859998insAAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.*385-27_*385-26insAAAAG	ENSP00000507923.1:n.*385-27_*385-26insAAAAG
ENST00000682358.1:n.11361-27_11361-26insAAAAG
ENST00000683334.1:c.*6973-27_*6973-26insAAAAG	ENSP00000507369.1:n.*6973-27_*6973-26insAAAAG
ENST00000357162.7:c.11216-27_11216-26insAAAAG MANE Select	ENSP00000349685.2:n.11216-27_11216-26insAAAAG
ENST00000358544.7:c.11291-27_11291-26insAAAAG MANE Plus Clinical	ENSP00000351346.2:n.11291-27_11291-26insAAAAG
ENST00000357162.6:c.11216-27_11216-26insAAAAG	ENSP00000349685.2:n.11216-27_11216-26insAAAAG
ENST00000358544.6:c.11291-27_11291-26insAAAAG	ENSP00000351346.2:n.11291-27_11291-26insAAAAG
ENST00000493587.1:n.206_207insAAAAG
NM_017890.4:c.11291-27_11291-26insAAAAG , LRG_351t1:c.11291-27_11291-26insAAAAG	NP_060360.3:n.11291-27_11291-26insAAAAG
NM_152564.4:c.11216-27_11216-26insAAAAG , LRG_351t2:c.11216-27_11216-26insAAAAG	NP_689777.3:n.11216-27_11216-26insAAAAG
XM_005250800.2:c.11291-27_11291-26insAAAAG	XP_005250857.1:n.11291-27_11291-26insAAAAG
XM_005250801.3:c.11291-27_11291-26insAAAAG	XP_005250858.1:n.11291-27_11291-26insAAAAG
XM_011516848.1:c.11288-27_11288-26insAAAAG	XP_011515150.1:n.11288-27_11288-26insAAAAG
XM_011516849.1:c.11213-27_11213-26insAAAAG	XP_011515151.1:n.11213-27_11213-26insAAAAG
XM_011516850.1:c.10913-27_10913-26insAAAAG	XP_011515152.1:n.10913-27_10913-26insAAAAG
XM_011516851.1:c.8177-27_8177-26insAAAAG	XP_011515153.1:n.8177-27_8177-26insAAAAG
XM_011516852.1:c.8177-27_8177-26insAAAAG	XP_011515154.1:n.8177-27_8177-26insAAAAG
XM_011516854.1:c.7070-27_7070-26insAAAAG	XP_011515156.1:n.7070-27_7070-26insAAAAG
XM_005250800.3:c.11291-27_11291-26insAAAAG	XP_005250857.1:n.11291-27_11291-26insAAAAG
XM_005250801.5:c.11291-27_11291-26insAAAAG	XP_005250858.1:n.11291-27_11291-26insAAAAG
XM_011516848.2:c.11288-27_11288-26insAAAAG	XP_011515150.1:n.11288-27_11288-26insAAAAG
XM_011516849.2:c.11213-27_11213-26insAAAAG	XP_011515151.1:n.11213-27_11213-26insAAAAG
XM_011516850.2:c.10913-27_10913-26insAAAAG	XP_011515152.1:n.10913-27_10913-26insAAAAG
XM_011516851.2:c.8177-27_8177-26insAAAAG	XP_011515153.1:n.8177-27_8177-26insAAAAG
XM_011516852.2:c.8177-27_8177-26insAAAAG	XP_011515154.1:n.8177-27_8177-26insAAAAG
XM_011516854.2:c.7070-27_7070-26insAAAAG	XP_011515156.1:n.7070-27_7070-26insAAAAG
XM_017013109.1:c.11096-27_11096-26insAAAAG	XP_016868598.1:n.11096-27_11096-26insAAAAG
XM_017013111.1:c.8177-27_8177-26insAAAAG	XP_016868600.1:n.8177-27_8177-26insAAAAG
XM_017013112.1:c.6848-27_6848-26insAAAAG	XP_016868601.1:n.6848-27_6848-26insAAAAG
XM_024447074.1:c.10076-27_10076-26insAAAAG	XP_024302842.1:n.10076-27_10076-26insAAAAG
NM_017890.5:c.11291-27_11291-26insAAAAG MANE Plus Clinical	NP_060360.3:n.11291-27_11291-26insAAAAG
NM_152564.5:c.11216-27_11216-26insAAAAG MANE Select	NP_689777.3:n.11216-27_11216-26insAAAAG