Canonical Allele Identifier: CA2509669810

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99391347_99391348del , CM000670.2:g.99391347_99391348del	GRCh38
NC_000008.10:g.100403575_100403576del , CM000670.1:g.100403575_100403576del	GRCh37
NC_000008.9:g.100472751_100472752del	NCBI36
NG_007098.2:g.383082_383083del , LRG_351:g.383082_383083del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.2935-213_2935-212del	ENSP00000347281.2:n.2935-213_2935-212del
ENST00000682145.1:n.2812-210_2812-209del
ENST00000682153.1:c.2935-210_2935-209del	ENSP00000507923.1:n.2935-210_2935-209del
ENST00000682234.1:c.2935-210_2935-209del	ENSP00000508225.1:n.2935-210_2935-209del
ENST00000682358.1:n.3005-210_3005-209del
ENST00000683334.1:c.2935-210_2935-209del	ENSP00000507369.1:n.2935-210_2935-209del
ENST00000683486.1:n.3001-210_3001-209del
ENST00000683619.1:n.3107-210_3107-209del
ENST00000683869.1:n.3016-210_3016-209del
ENST00000357162.7:c.2935-210_2935-209del MANE Select	ENSP00000349685.2:n.2935-210_2935-209del
ENST00000358544.7:c.2935-210_2935-209del MANE Plus Clinical	ENSP00000351346.2:n.2935-210_2935-209del
ENST00000357162.6:c.2935-210_2935-209del	ENSP00000349685.2:n.2935-210_2935-209del
ENST00000358544.6:c.2935-210_2935-209del	ENSP00000351346.2:n.2935-210_2935-209del
ENST00000496144.5:c.2935-210_2935-209del	ENSP00000430900.1:n.2935-210_2935-209del
ENST00000521037.1:n.106-210_106-209del
ENST00000522802.5:n.157-210_157-209del
NM_017890.4:c.2935-210_2935-209del , LRG_351t1:c.2935-210_2935-209del	NP_060360.3:n.2935-210_2935-209del
NM_152564.4:c.2935-210_2935-209del , LRG_351t2:c.2935-210_2935-209del	NP_689777.3:n.2935-210_2935-209del
XM_005250800.2:c.2935-210_2935-209del	XP_005250857.1:n.2935-210_2935-209del
XM_005250801.3:c.2935-210_2935-209del	XP_005250858.1:n.2935-210_2935-209del
XM_006716510.2:c.2935-210_2935-209del	XP_006716573.1:n.2935-210_2935-209del
XM_011516848.1:c.2935-213_2935-212del	XP_011515150.1:n.2935-213_2935-212del
XM_011516849.1:c.2935-210_2935-209del	XP_011515151.1:n.2935-210_2935-209del
XM_011516850.1:c.2557-210_2557-209del	XP_011515152.1:n.2557-210_2557-209del
XM_011516853.1:c.2935-210_2935-209del	XP_011515155.1:n.2935-210_2935-209del
XM_011516855.1:c.2935-210_2935-209del	XP_011515157.1:n.2935-210_2935-209del
XM_011516856.1:c.2935-210_2935-209del	XP_011515158.1:n.2935-210_2935-209del
XM_011516857.1:c.2935-210_2935-209del	XP_011515159.1:n.2935-210_2935-209del
XM_011516858.1:c.2935-210_2935-209del	XP_011515160.1:n.2935-210_2935-209del
XM_011516859.1:c.2935-210_2935-209del	XP_011515161.1:n.2935-210_2935-209del
XM_011516860.1:c.2935-210_2935-209del	XP_011515162.1:n.2935-210_2935-209del
XM_011516861.1:c.2935-210_2935-209del	XP_011515163.1:n.2935-210_2935-209del
XR_928301.1:n.3038-210_3038-209del
XR_928302.1:n.3038-210_3038-209del
XR_928303.1:n.3038-210_3038-209del
XR_928304.1:n.3038-210_3038-209del
XM_005250800.3:c.2935-210_2935-209del	XP_005250857.1:n.2935-210_2935-209del
XM_005250801.5:c.2935-210_2935-209del	XP_005250858.1:n.2935-210_2935-209del
XM_006716510.3:c.2935-210_2935-209del	XP_006716573.1:n.2935-210_2935-209del
XM_011516848.2:c.2935-213_2935-212del	XP_011515150.1:n.2935-213_2935-212del
XM_011516849.2:c.2935-210_2935-209del	XP_011515151.1:n.2935-210_2935-209del
XM_011516850.2:c.2557-210_2557-209del	XP_011515152.1:n.2557-210_2557-209del
XM_011516853.2:c.2935-210_2935-209del	XP_011515155.1:n.2935-210_2935-209del
XM_011516859.2:c.2935-210_2935-209del	XP_011515161.1:n.2935-210_2935-209del
XM_017013109.1:c.2740-210_2740-209del	XP_016868598.1:n.2740-210_2740-209del
XM_024447074.1:c.1720-210_1720-209del	XP_024302842.1:n.1720-210_1720-209del
XM_024447075.1:c.2935-210_2935-209del	XP_024302843.1:n.2935-210_2935-209del
XR_001745481.1:n.3038-210_3038-209del
XR_001745482.2:n.3038-210_3038-209del
XR_001745484.2:n.3038-210_3038-209del
XR_002956601.1:n.3038-213_3038-212del
XR_002956602.1:n.3038-210_3038-209del
XR_928302.2:n.3038-210_3038-209del
NM_017890.5:c.2935-210_2935-209del MANE Plus Clinical	NP_060360.3:n.2935-210_2935-209del
NM_152564.5:c.2935-210_2935-209del MANE Select	NP_689777.3:n.2935-210_2935-209del