Canonical Allele Identifier: CA2781479923

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835793_99835794insAGA , CM000670.2:g.99835793_99835794insAGA	GRCh38
NC_000008.10:g.100848021_100848022insAGA , CM000670.1:g.100848021_100848022insAGA	GRCh37
NC_000008.9:g.100917197_100917198insAGA	NCBI36
NG_007098.2:g.827528_827529insAGA , LRG_351:g.827528_827529insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10017+55_10017+56insAGA	ENSP00000507923.1:n.10017+55_10017+56insAGA
ENST00000682358.1:n.10087+55_10087+56insAGA
ENST00000683334.1:c.*5699+55_*5699+56insAGA	ENSP00000507369.1:n.*5699+55_*5699+56insAGA
ENST00000357162.7:c.9942+55_9942+56insAGA MANE Select	ENSP00000349685.2:n.9942+55_9942+56insAGA
ENST00000358544.7:c.10017+55_10017+56insAGA MANE Plus Clinical	ENSP00000351346.2:n.10017+55_10017+56insAGA
ENST00000357162.6:c.9942+55_9942+56insAGA	ENSP00000349685.2:n.9942+55_9942+56insAGA
ENST00000358544.6:c.10017+55_10017+56insAGA	ENSP00000351346.2:n.10017+55_10017+56insAGA
NM_017890.4:c.10017+55_10017+56insAGA , LRG_351t1:c.10017+55_10017+56insAGA	NP_060360.3:n.10017+55_10017+56insAGA
NM_152564.4:c.9942+55_9942+56insAGA , LRG_351t2:c.9942+55_9942+56insAGA	NP_689777.3:n.9942+55_9942+56insAGA
XM_005250800.2:c.10017+55_10017+56insAGA	XP_005250857.1:n.10017+55_10017+56insAGA
XM_005250801.3:c.10017+55_10017+56insAGA	XP_005250858.1:n.10017+55_10017+56insAGA
XM_011516848.1:c.10014+55_10014+56insAGA	XP_011515150.1:n.10014+55_10014+56insAGA
XM_011516849.1:c.9939+55_9939+56insAGA	XP_011515151.1:n.9939+55_9939+56insAGA
XM_011516850.1:c.9639+55_9639+56insAGA	XP_011515152.1:n.9639+55_9639+56insAGA
XM_011516851.1:c.6903+55_6903+56insAGA	XP_011515153.1:n.6903+55_6903+56insAGA
XM_011516852.1:c.6903+55_6903+56insAGA	XP_011515154.1:n.6903+55_6903+56insAGA
XM_011516854.1:c.5796+55_5796+56insAGA	XP_011515156.1:n.5796+55_5796+56insAGA
XM_005250800.3:c.10017+55_10017+56insAGA	XP_005250857.1:n.10017+55_10017+56insAGA
XM_005250801.5:c.10017+55_10017+56insAGA	XP_005250858.1:n.10017+55_10017+56insAGA
XM_011516848.2:c.10014+55_10014+56insAGA	XP_011515150.1:n.10014+55_10014+56insAGA
XM_011516849.2:c.9939+55_9939+56insAGA	XP_011515151.1:n.9939+55_9939+56insAGA
XM_011516850.2:c.9639+55_9639+56insAGA	XP_011515152.1:n.9639+55_9639+56insAGA
XM_011516851.2:c.6903+55_6903+56insAGA	XP_011515153.1:n.6903+55_6903+56insAGA
XM_011516852.2:c.6903+55_6903+56insAGA	XP_011515154.1:n.6903+55_6903+56insAGA
XM_011516854.2:c.5796+55_5796+56insAGA	XP_011515156.1:n.5796+55_5796+56insAGA
XM_017013109.1:c.9822+55_9822+56insAGA	XP_016868598.1:n.9822+55_9822+56insAGA
XM_017013111.1:c.6903+55_6903+56insAGA	XP_016868600.1:n.6903+55_6903+56insAGA
XM_017013112.1:c.5574+55_5574+56insAGA	XP_016868601.1:n.5574+55_5574+56insAGA
XM_024447074.1:c.8802+55_8802+56insAGA	XP_024302842.1:n.8802+55_8802+56insAGA
NM_017890.5:c.10017+55_10017+56insAGA MANE Plus Clinical	NP_060360.3:n.10017+55_10017+56insAGA
NM_152564.5:c.9942+55_9942+56insAGA MANE Select	NP_689777.3:n.9942+55_9942+56insAGA