Canonical Allele Identifier: CA2688064976

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99391833-A-AGTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99391833_99391834insGTTTT , CM000670.2:g.99391833_99391834insGTTTT	GRCh38
NC_000008.10:g.100404061_100404062insGTTTT , CM000670.1:g.100404061_100404062insGTTTT	GRCh37
NC_000008.9:g.100473237_100473238insGTTTT	NCBI36
NG_007098.2:g.383568_383569insGTTTT , LRG_351:g.383568_383569insGTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.3079+129_3079+130insGTTTT	ENSP00000347281.2:n.3079+129_3079+130insGTTTT
ENST00000682145.1:n.2959+129_2959+130insGTTTT
ENST00000682153.1:c.3082+129_3082+130insGTTTT	ENSP00000507923.1:n.3082+129_3082+130insGTTTT
ENST00000682234.1:c.3082+129_3082+130insGTTTT	ENSP00000508225.1:n.3082+129_3082+130insGTTTT
ENST00000682358.1:n.3152+129_3152+130insGTTTT
ENST00000683334.1:c.3082+129_3082+130insGTTTT	ENSP00000507369.1:n.3082+129_3082+130insGTTTT
ENST00000683486.1:n.3148+129_3148+130insGTTTT
ENST00000683619.1:n.3254+129_3254+130insGTTTT
ENST00000683869.1:n.3292_3293insGTTTT
ENST00000357162.7:c.3082+129_3082+130insGTTTT MANE Select	ENSP00000349685.2:n.3082+129_3082+130insGTTTT
ENST00000358544.7:c.3082+129_3082+130insGTTTT MANE Plus Clinical	ENSP00000351346.2:n.3082+129_3082+130insGTTTT
ENST00000357162.6:c.3082+129_3082+130insGTTTT	ENSP00000349685.2:n.3082+129_3082+130insGTTTT
ENST00000358544.6:c.3082+129_3082+130insGTTTT	ENSP00000351346.2:n.3082+129_3082+130insGTTTT
ENST00000496144.5:c.3082+129_3082+130insGTTTT	ENSP00000430900.1:n.3082+129_3082+130insGTTTT
ENST00000521037.1:n.253+129_253+130insGTTTT
ENST00000522802.5:n.304+129_304+130insGTTTT
NM_017890.4:c.3082+129_3082+130insGTTTT , LRG_351t1:c.3082+129_3082+130insGTTTT	NP_060360.3:n.3082+129_3082+130insGTTTT
NM_152564.4:c.3082+129_3082+130insGTTTT , LRG_351t2:c.3082+129_3082+130insGTTTT	NP_689777.3:n.3082+129_3082+130insGTTTT
XM_005250800.2:c.3082+129_3082+130insGTTTT	XP_005250857.1:n.3082+129_3082+130insGTTTT
XM_005250801.3:c.3082+129_3082+130insGTTTT	XP_005250858.1:n.3082+129_3082+130insGTTTT
XM_006716510.2:c.3082+129_3082+130insGTTTT	XP_006716573.1:n.3082+129_3082+130insGTTTT
XM_011516848.1:c.3079+129_3079+130insGTTTT	XP_011515150.1:n.3079+129_3079+130insGTTTT
XM_011516849.1:c.3082+129_3082+130insGTTTT	XP_011515151.1:n.3082+129_3082+130insGTTTT
XM_011516850.1:c.2704+129_2704+130insGTTTT	XP_011515152.1:n.2704+129_2704+130insGTTTT
XM_011516851.1:c.-49+129_-49+130insGTTTT	XP_011515153.1:n.-49+129_-49+130insGTTTT
XM_011516853.1:c.3082+129_3082+130insGTTTT	XP_011515155.1:n.3082+129_3082+130insGTTTT
XM_011516855.1:c.3082+129_3082+130insGTTTT	XP_011515157.1:n.3082+129_3082+130insGTTTT
XM_011516856.1:c.3082+129_3082+130insGTTTT	XP_011515158.1:n.3082+129_3082+130insGTTTT
XM_011516857.1:c.3082+129_3082+130insGTTTT	XP_011515159.1:n.3082+129_3082+130insGTTTT
XM_011516858.1:c.3082+129_3082+130insGTTTT	XP_011515160.1:n.3082+129_3082+130insGTTTT
XM_011516859.1:c.3082+129_3082+130insGTTTT	XP_011515161.1:n.3082+129_3082+130insGTTTT
XM_011516860.1:c.3082+129_3082+130insGTTTT	XP_011515162.1:n.3082+129_3082+130insGTTTT
XM_011516861.1:c.3082+129_3082+130insGTTTT	XP_011515163.1:n.3082+129_3082+130insGTTTT
XR_928301.1:n.3185+129_3185+130insGTTTT
XR_928302.1:n.3185+129_3185+130insGTTTT
XR_928303.1:n.3185+129_3185+130insGTTTT
XR_928304.1:n.3185+129_3185+130insGTTTT
XM_005250800.3:c.3082+129_3082+130insGTTTT	XP_005250857.1:n.3082+129_3082+130insGTTTT
XM_005250801.5:c.3082+129_3082+130insGTTTT	XP_005250858.1:n.3082+129_3082+130insGTTTT
XM_006716510.3:c.3082+129_3082+130insGTTTT	XP_006716573.1:n.3082+129_3082+130insGTTTT
XM_011516848.2:c.3079+129_3079+130insGTTTT	XP_011515150.1:n.3079+129_3079+130insGTTTT
XM_011516849.2:c.3082+129_3082+130insGTTTT	XP_011515151.1:n.3082+129_3082+130insGTTTT
XM_011516850.2:c.2704+129_2704+130insGTTTT	XP_011515152.1:n.2704+129_2704+130insGTTTT
XM_011516851.2:c.-49+129_-49+130insGTTTT	XP_011515153.1:n.-49+129_-49+130insGTTTT
XM_011516853.2:c.3082+129_3082+130insGTTTT	XP_011515155.1:n.3082+129_3082+130insGTTTT
XM_011516859.2:c.3082+129_3082+130insGTTTT	XP_011515161.1:n.3082+129_3082+130insGTTTT
XM_017013109.1:c.2887+129_2887+130insGTTTT	XP_016868598.1:n.2887+129_2887+130insGTTTT
XM_024447074.1:c.1867+129_1867+130insGTTTT	XP_024302842.1:n.1867+129_1867+130insGTTTT
XM_024447075.1:c.3082+129_3082+130insGTTTT	XP_024302843.1:n.3082+129_3082+130insGTTTT
XR_001745481.1:n.3185+129_3185+130insGTTTT
XR_001745482.2:n.3185+129_3185+130insGTTTT
XR_001745484.2:n.3185+129_3185+130insGTTTT
XR_002956601.1:n.3182+129_3182+130insGTTTT
XR_002956602.1:n.3185+129_3185+130insGTTTT
XR_928302.2:n.3185+129_3185+130insGTTTT
NM_017890.5:c.3082+129_3082+130insGTTTT MANE Plus Clinical	NP_060360.3:n.3082+129_3082+130insGTTTT
NM_152564.5:c.3082+129_3082+130insGTTTT MANE Select	NP_689777.3:n.3082+129_3082+130insGTTTT