Canonical Allele Identifier: CA2688071216

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99835849-CTGTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835852_99835855del , CM000670.2:g.99835852_99835855del	GRCh38
NC_000008.10:g.100848080_100848083del , CM000670.1:g.100848080_100848083del	GRCh37
NC_000008.9:g.100917256_100917259del	NCBI36
NG_007098.2:g.827587_827590del , LRG_351:g.827587_827590del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10017+114_10017+117del	ENSP00000507923.1:n.10017+114_10017+117del
ENST00000682358.1:n.10087+114_10087+117del
ENST00000683334.1:c.*5699+114_*5699+117del	ENSP00000507369.1:n.*5699+114_*5699+117del
ENST00000357162.7:c.9942+114_9942+117del MANE Select	ENSP00000349685.2:n.9942+114_9942+117del
ENST00000358544.7:c.10017+114_10017+117del MANE Plus Clinical	ENSP00000351346.2:n.10017+114_10017+117del
ENST00000357162.6:c.9942+114_9942+117del	ENSP00000349685.2:n.9942+114_9942+117del
ENST00000358544.6:c.10017+114_10017+117del	ENSP00000351346.2:n.10017+114_10017+117del
NM_017890.4:c.10017+114_10017+117del , LRG_351t1:c.10017+114_10017+117del	NP_060360.3:n.10017+114_10017+117del
NM_152564.4:c.9942+114_9942+117del , LRG_351t2:c.9942+114_9942+117del	NP_689777.3:n.9942+114_9942+117del
XM_005250800.2:c.10017+114_10017+117del	XP_005250857.1:n.10017+114_10017+117del
XM_005250801.3:c.10017+114_10017+117del	XP_005250858.1:n.10017+114_10017+117del
XM_011516848.1:c.10014+114_10014+117del	XP_011515150.1:n.10014+114_10014+117del
XM_011516849.1:c.9939+114_9939+117del	XP_011515151.1:n.9939+114_9939+117del
XM_011516850.1:c.9639+114_9639+117del	XP_011515152.1:n.9639+114_9639+117del
XM_011516851.1:c.6903+114_6903+117del	XP_011515153.1:n.6903+114_6903+117del
XM_011516852.1:c.6903+114_6903+117del	XP_011515154.1:n.6903+114_6903+117del
XM_011516854.1:c.5796+114_5796+117del	XP_011515156.1:n.5796+114_5796+117del
XM_005250800.3:c.10017+114_10017+117del	XP_005250857.1:n.10017+114_10017+117del
XM_005250801.5:c.10017+114_10017+117del	XP_005250858.1:n.10017+114_10017+117del
XM_011516848.2:c.10014+114_10014+117del	XP_011515150.1:n.10014+114_10014+117del
XM_011516849.2:c.9939+114_9939+117del	XP_011515151.1:n.9939+114_9939+117del
XM_011516850.2:c.9639+114_9639+117del	XP_011515152.1:n.9639+114_9639+117del
XM_011516851.2:c.6903+114_6903+117del	XP_011515153.1:n.6903+114_6903+117del
XM_011516852.2:c.6903+114_6903+117del	XP_011515154.1:n.6903+114_6903+117del
XM_011516854.2:c.5796+114_5796+117del	XP_011515156.1:n.5796+114_5796+117del
XM_017013109.1:c.9822+114_9822+117del	XP_016868598.1:n.9822+114_9822+117del
XM_017013111.1:c.6903+114_6903+117del	XP_016868600.1:n.6903+114_6903+117del
XM_017013112.1:c.5574+114_5574+117del	XP_016868601.1:n.5574+114_5574+117del
XM_024447074.1:c.8802+114_8802+117del	XP_024302842.1:n.8802+114_8802+117del
NM_017890.5:c.10017+114_10017+117del MANE Plus Clinical	NP_060360.3:n.10017+114_10017+117del
NM_152564.5:c.9942+114_9942+117del MANE Select	NP_689777.3:n.9942+114_9942+117del