Canonical Allele Identifier: CA2781479951

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835807_99835808insAG , CM000670.2:g.99835807_99835808insAG	GRCh38
NC_000008.10:g.100848035_100848036insAG , CM000670.1:g.100848035_100848036insAG	GRCh37
NC_000008.9:g.100917211_100917212insAG	NCBI36
NG_007098.2:g.827542_827543insAG , LRG_351:g.827542_827543insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10017+69_10017+70insAG	ENSP00000507923.1:n.10017+69_10017+70insAG
ENST00000682358.1:n.10087+69_10087+70insAG
ENST00000683334.1:c.*5699+69_*5699+70insAG	ENSP00000507369.1:n.*5699+69_*5699+70insAG
ENST00000357162.7:c.9942+69_9942+70insAG MANE Select	ENSP00000349685.2:n.9942+69_9942+70insAG
ENST00000358544.7:c.10017+69_10017+70insAG MANE Plus Clinical	ENSP00000351346.2:n.10017+69_10017+70insAG
ENST00000357162.6:c.9942+69_9942+70insAG	ENSP00000349685.2:n.9942+69_9942+70insAG
ENST00000358544.6:c.10017+69_10017+70insAG	ENSP00000351346.2:n.10017+69_10017+70insAG
NM_017890.4:c.10017+69_10017+70insAG , LRG_351t1:c.10017+69_10017+70insAG	NP_060360.3:n.10017+69_10017+70insAG
NM_152564.4:c.9942+69_9942+70insAG , LRG_351t2:c.9942+69_9942+70insAG	NP_689777.3:n.9942+69_9942+70insAG
XM_005250800.2:c.10017+69_10017+70insAG	XP_005250857.1:n.10017+69_10017+70insAG
XM_005250801.3:c.10017+69_10017+70insAG	XP_005250858.1:n.10017+69_10017+70insAG
XM_011516848.1:c.10014+69_10014+70insAG	XP_011515150.1:n.10014+69_10014+70insAG
XM_011516849.1:c.9939+69_9939+70insAG	XP_011515151.1:n.9939+69_9939+70insAG
XM_011516850.1:c.9639+69_9639+70insAG	XP_011515152.1:n.9639+69_9639+70insAG
XM_011516851.1:c.6903+69_6903+70insAG	XP_011515153.1:n.6903+69_6903+70insAG
XM_011516852.1:c.6903+69_6903+70insAG	XP_011515154.1:n.6903+69_6903+70insAG
XM_011516854.1:c.5796+69_5796+70insAG	XP_011515156.1:n.5796+69_5796+70insAG
XM_005250800.3:c.10017+69_10017+70insAG	XP_005250857.1:n.10017+69_10017+70insAG
XM_005250801.5:c.10017+69_10017+70insAG	XP_005250858.1:n.10017+69_10017+70insAG
XM_011516848.2:c.10014+69_10014+70insAG	XP_011515150.1:n.10014+69_10014+70insAG
XM_011516849.2:c.9939+69_9939+70insAG	XP_011515151.1:n.9939+69_9939+70insAG
XM_011516850.2:c.9639+69_9639+70insAG	XP_011515152.1:n.9639+69_9639+70insAG
XM_011516851.2:c.6903+69_6903+70insAG	XP_011515153.1:n.6903+69_6903+70insAG
XM_011516852.2:c.6903+69_6903+70insAG	XP_011515154.1:n.6903+69_6903+70insAG
XM_011516854.2:c.5796+69_5796+70insAG	XP_011515156.1:n.5796+69_5796+70insAG
XM_017013109.1:c.9822+69_9822+70insAG	XP_016868598.1:n.9822+69_9822+70insAG
XM_017013111.1:c.6903+69_6903+70insAG	XP_016868600.1:n.6903+69_6903+70insAG
XM_017013112.1:c.5574+69_5574+70insAG	XP_016868601.1:n.5574+69_5574+70insAG
XM_024447074.1:c.8802+69_8802+70insAG	XP_024302842.1:n.8802+69_8802+70insAG
NM_017890.5:c.10017+69_10017+70insAG MANE Plus Clinical	NP_060360.3:n.10017+69_10017+70insAG
NM_152564.5:c.9942+69_9942+70insAG MANE Select	NP_689777.3:n.9942+69_9942+70insAG