Canonical Allele Identifier: CA2781480000

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835875_99835876insAGA , CM000670.2:g.99835875_99835876insAGA	GRCh38
NC_000008.10:g.100848103_100848104insAGA , CM000670.1:g.100848103_100848104insAGA	GRCh37
NC_000008.9:g.100917279_100917280insAGA	NCBI36
NG_007098.2:g.827610_827611insAGA , LRG_351:g.827610_827611insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10017+137_10017+138insAGA	ENSP00000507923.1:n.10017+137_10017+138insAGA
ENST00000682358.1:n.10087+137_10087+138insAGA
ENST00000683334.1:c.*5699+137_*5699+138insAGA	ENSP00000507369.1:n.*5699+137_*5699+138insAGA
ENST00000357162.7:c.9942+137_9942+138insAGA MANE Select	ENSP00000349685.2:n.9942+137_9942+138insAGA
ENST00000358544.7:c.10017+137_10017+138insAGA MANE Plus Clinical	ENSP00000351346.2:n.10017+137_10017+138insAGA
ENST00000357162.6:c.9942+137_9942+138insAGA	ENSP00000349685.2:n.9942+137_9942+138insAGA
ENST00000358544.6:c.10017+137_10017+138insAGA	ENSP00000351346.2:n.10017+137_10017+138insAGA
NM_017890.4:c.10017+137_10017+138insAGA , LRG_351t1:c.10017+137_10017+138insAGA	NP_060360.3:n.10017+137_10017+138insAGA
NM_152564.4:c.9942+137_9942+138insAGA , LRG_351t2:c.9942+137_9942+138insAGA	NP_689777.3:n.9942+137_9942+138insAGA
XM_005250800.2:c.10017+137_10017+138insAGA	XP_005250857.1:n.10017+137_10017+138insAGA
XM_005250801.3:c.10017+137_10017+138insAGA	XP_005250858.1:n.10017+137_10017+138insAGA
XM_011516848.1:c.10014+137_10014+138insAGA	XP_011515150.1:n.10014+137_10014+138insAGA
XM_011516849.1:c.9939+137_9939+138insAGA	XP_011515151.1:n.9939+137_9939+138insAGA
XM_011516850.1:c.9639+137_9639+138insAGA	XP_011515152.1:n.9639+137_9639+138insAGA
XM_011516851.1:c.6903+137_6903+138insAGA	XP_011515153.1:n.6903+137_6903+138insAGA
XM_011516852.1:c.6903+137_6903+138insAGA	XP_011515154.1:n.6903+137_6903+138insAGA
XM_011516854.1:c.5796+137_5796+138insAGA	XP_011515156.1:n.5796+137_5796+138insAGA
XM_005250800.3:c.10017+137_10017+138insAGA	XP_005250857.1:n.10017+137_10017+138insAGA
XM_005250801.5:c.10017+137_10017+138insAGA	XP_005250858.1:n.10017+137_10017+138insAGA
XM_011516848.2:c.10014+137_10014+138insAGA	XP_011515150.1:n.10014+137_10014+138insAGA
XM_011516849.2:c.9939+137_9939+138insAGA	XP_011515151.1:n.9939+137_9939+138insAGA
XM_011516850.2:c.9639+137_9639+138insAGA	XP_011515152.1:n.9639+137_9639+138insAGA
XM_011516851.2:c.6903+137_6903+138insAGA	XP_011515153.1:n.6903+137_6903+138insAGA
XM_011516852.2:c.6903+137_6903+138insAGA	XP_011515154.1:n.6903+137_6903+138insAGA
XM_011516854.2:c.5796+137_5796+138insAGA	XP_011515156.1:n.5796+137_5796+138insAGA
XM_017013109.1:c.9822+137_9822+138insAGA	XP_016868598.1:n.9822+137_9822+138insAGA
XM_017013111.1:c.6903+137_6903+138insAGA	XP_016868600.1:n.6903+137_6903+138insAGA
XM_017013112.1:c.5574+137_5574+138insAGA	XP_016868601.1:n.5574+137_5574+138insAGA
XM_024447074.1:c.8802+137_8802+138insAGA	XP_024302842.1:n.8802+137_8802+138insAGA
NM_017890.5:c.10017+137_10017+138insAGA MANE Plus Clinical	NP_060360.3:n.10017+137_10017+138insAGA
NM_152564.5:c.9942+137_9942+138insAGA MANE Select	NP_689777.3:n.9942+137_9942+138insAGA