Canonical Allele Identifier: CA2781480148

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99832766_99832767insAG , CM000670.2:g.99832766_99832767insAG	GRCh38
NC_000008.10:g.100844994_100844995insAG , CM000670.1:g.100844994_100844995insAG	GRCh37
NC_000008.9:g.100914170_100914171insAG	NCBI36
NG_007098.2:g.824501_824502insAG , LRG_351:g.824501_824502insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.9689+114_9689+115insAG	ENSP00000507923.1:n.9689+114_9689+115insAG
ENST00000682358.1:n.9759+114_9759+115insAG
ENST00000683334.1:c.*5371+114_*5371+115insAG	ENSP00000507369.1:n.*5371+114_*5371+115insAG
ENST00000357162.7:c.9614+114_9614+115insAG MANE Select	ENSP00000349685.2:n.9614+114_9614+115insAG
ENST00000358544.7:c.9689+114_9689+115insAG MANE Plus Clinical	ENSP00000351346.2:n.9689+114_9689+115insAG
ENST00000357162.6:c.9614+114_9614+115insAG	ENSP00000349685.2:n.9614+114_9614+115insAG
ENST00000358544.6:c.9689+114_9689+115insAG	ENSP00000351346.2:n.9689+114_9689+115insAG
NM_017890.4:c.9689+114_9689+115insAG , LRG_351t1:c.9689+114_9689+115insAG	NP_060360.3:n.9689+114_9689+115insAG
NM_152564.4:c.9614+114_9614+115insAG , LRG_351t2:c.9614+114_9614+115insAG	NP_689777.3:n.9614+114_9614+115insAG
XM_005250800.2:c.9689+114_9689+115insAG	XP_005250857.1:n.9689+114_9689+115insAG
XM_005250801.3:c.9689+114_9689+115insAG	XP_005250858.1:n.9689+114_9689+115insAG
XM_011516848.1:c.9686+114_9686+115insAG	XP_011515150.1:n.9686+114_9686+115insAG
XM_011516849.1:c.9611+114_9611+115insAG	XP_011515151.1:n.9611+114_9611+115insAG
XM_011516850.1:c.9311+114_9311+115insAG	XP_011515152.1:n.9311+114_9311+115insAG
XM_011516851.1:c.6575+114_6575+115insAG	XP_011515153.1:n.6575+114_6575+115insAG
XM_011516852.1:c.6575+114_6575+115insAG	XP_011515154.1:n.6575+114_6575+115insAG
XM_011516854.1:c.5468+114_5468+115insAG	XP_011515156.1:n.5468+114_5468+115insAG
XM_005250800.3:c.9689+114_9689+115insAG	XP_005250857.1:n.9689+114_9689+115insAG
XM_005250801.5:c.9689+114_9689+115insAG	XP_005250858.1:n.9689+114_9689+115insAG
XM_011516848.2:c.9686+114_9686+115insAG	XP_011515150.1:n.9686+114_9686+115insAG
XM_011516849.2:c.9611+114_9611+115insAG	XP_011515151.1:n.9611+114_9611+115insAG
XM_011516850.2:c.9311+114_9311+115insAG	XP_011515152.1:n.9311+114_9311+115insAG
XM_011516851.2:c.6575+114_6575+115insAG	XP_011515153.1:n.6575+114_6575+115insAG
XM_011516852.2:c.6575+114_6575+115insAG	XP_011515154.1:n.6575+114_6575+115insAG
XM_011516854.2:c.5468+114_5468+115insAG	XP_011515156.1:n.5468+114_5468+115insAG
XM_017013109.1:c.9494+114_9494+115insAG	XP_016868598.1:n.9494+114_9494+115insAG
XM_017013111.1:c.6575+114_6575+115insAG	XP_016868600.1:n.6575+114_6575+115insAG
XM_017013112.1:c.5246+114_5246+115insAG	XP_016868601.1:n.5246+114_5246+115insAG
XM_024447074.1:c.8474+114_8474+115insAG	XP_024302842.1:n.8474+114_8474+115insAG
NM_017890.5:c.9689+114_9689+115insAG MANE Plus Clinical	NP_060360.3:n.9689+114_9689+115insAG
NM_152564.5:c.9614+114_9614+115insAG MANE Select	NP_689777.3:n.9614+114_9614+115insAG