Canonical Allele Identifier: CA2688071219

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99835850-T-TCACACAGAGAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99835850_99835851insCACACAGAGAAAA , CM000670.2:g.99835850_99835851insCACACAGAGAAAA	GRCh38
NC_000008.10:g.100848078_100848079insCACACAGAGAAAA , CM000670.1:g.100848078_100848079insCACACAGAGAAAA	GRCh37
NC_000008.9:g.100917254_100917255insCACACAGAGAAAA	NCBI36
NG_007098.2:g.827585_827586insCACACAGAGAAAA , LRG_351:g.827585_827586insCACACAGAGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.10017+112_10017+113insCACACAGAGAAAA	ENSP00000507923.1:n.10017+112_10017+113insCACACAGAGAAAA
ENST00000682358.1:n.10087+112_10087+113insCACACAGAGAAAA
ENST00000683334.1:c.*5699+112_*5699+113insCACACAGAGAAAA	ENSP00000507369.1:n.*5699+112_*5699+113insCACACAGAGAAAA
ENST00000357162.7:c.9942+112_9942+113insCACACAGAGAAAA MANE Select	ENSP00000349685.2:n.9942+112_9942+113insCACACAGAGAAAA
ENST00000358544.7:c.10017+112_10017+113insCACACAGAGAAAA MANE Plus Clinical	ENSP00000351346.2:n.10017+112_10017+113insCACACAGAGAAAA
ENST00000357162.6:c.9942+112_9942+113insCACACAGAGAAAA	ENSP00000349685.2:n.9942+112_9942+113insCACACAGAGAAAA
ENST00000358544.6:c.10017+112_10017+113insCACACAGAGAAAA	ENSP00000351346.2:n.10017+112_10017+113insCACACAGAGAAAA
NM_017890.4:c.10017+112_10017+113insCACACAGAGAAAA , LRG_351t1:c.10017+112_10017+113insCACACAGAGAAAA	NP_060360.3:n.10017+112_10017+113insCACACAGAGAAAA
NM_152564.4:c.9942+112_9942+113insCACACAGAGAAAA , LRG_351t2:c.9942+112_9942+113insCACACAGAGAAAA	NP_689777.3:n.9942+112_9942+113insCACACAGAGAAAA
XM_005250800.2:c.10017+112_10017+113insCACACAGAGAAAA	XP_005250857.1:n.10017+112_10017+113insCACACAGAGAAAA
XM_005250801.3:c.10017+112_10017+113insCACACAGAGAAAA	XP_005250858.1:n.10017+112_10017+113insCACACAGAGAAAA
XM_011516848.1:c.10014+112_10014+113insCACACAGAGAAAA	XP_011515150.1:n.10014+112_10014+113insCACACAGAGAAAA
XM_011516849.1:c.9939+112_9939+113insCACACAGAGAAAA	XP_011515151.1:n.9939+112_9939+113insCACACAGAGAAAA
XM_011516850.1:c.9639+112_9639+113insCACACAGAGAAAA	XP_011515152.1:n.9639+112_9639+113insCACACAGAGAAAA
XM_011516851.1:c.6903+112_6903+113insCACACAGAGAAAA	XP_011515153.1:n.6903+112_6903+113insCACACAGAGAAAA
XM_011516852.1:c.6903+112_6903+113insCACACAGAGAAAA	XP_011515154.1:n.6903+112_6903+113insCACACAGAGAAAA
XM_011516854.1:c.5796+112_5796+113insCACACAGAGAAAA	XP_011515156.1:n.5796+112_5796+113insCACACAGAGAAAA
XM_005250800.3:c.10017+112_10017+113insCACACAGAGAAAA	XP_005250857.1:n.10017+112_10017+113insCACACAGAGAAAA
XM_005250801.5:c.10017+112_10017+113insCACACAGAGAAAA	XP_005250858.1:n.10017+112_10017+113insCACACAGAGAAAA
XM_011516848.2:c.10014+112_10014+113insCACACAGAGAAAA	XP_011515150.1:n.10014+112_10014+113insCACACAGAGAAAA
XM_011516849.2:c.9939+112_9939+113insCACACAGAGAAAA	XP_011515151.1:n.9939+112_9939+113insCACACAGAGAAAA
XM_011516850.2:c.9639+112_9639+113insCACACAGAGAAAA	XP_011515152.1:n.9639+112_9639+113insCACACAGAGAAAA
XM_011516851.2:c.6903+112_6903+113insCACACAGAGAAAA	XP_011515153.1:n.6903+112_6903+113insCACACAGAGAAAA
XM_011516852.2:c.6903+112_6903+113insCACACAGAGAAAA	XP_011515154.1:n.6903+112_6903+113insCACACAGAGAAAA
XM_011516854.2:c.5796+112_5796+113insCACACAGAGAAAA	XP_011515156.1:n.5796+112_5796+113insCACACAGAGAAAA
XM_017013109.1:c.9822+112_9822+113insCACACAGAGAAAA	XP_016868598.1:n.9822+112_9822+113insCACACAGAGAAAA
XM_017013111.1:c.6903+112_6903+113insCACACAGAGAAAA	XP_016868600.1:n.6903+112_6903+113insCACACAGAGAAAA
XM_017013112.1:c.5574+112_5574+113insCACACAGAGAAAA	XP_016868601.1:n.5574+112_5574+113insCACACAGAGAAAA
XM_024447074.1:c.8802+112_8802+113insCACACAGAGAAAA	XP_024302842.1:n.8802+112_8802+113insCACACAGAGAAAA
NM_017890.5:c.10017+112_10017+113insCACACAGAGAAAA MANE Plus Clinical	NP_060360.3:n.10017+112_10017+113insCACACAGAGAAAA
NM_152564.5:c.9942+112_9942+113insCACACAGAGAAAA MANE Select	NP_689777.3:n.9942+112_9942+113insCACACAGAGAAAA