Canonical Allele Identifier: CA2781466930

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99391681_99391682insCGCTTTTTTTTTTCTCTCTCTCT , CM000670.2:g.99391681_99391682insCGCTTTTTTTTTTCTCTCTCTCT	GRCh38
NC_000008.10:g.100403909_100403910insCGCTTTTTTTTTTCTCTCTCTCT , CM000670.1:g.100403909_100403910insCGCTTTTTTTTTTCTCTCTCTCT	GRCh37
NC_000008.9:g.100473085_100473086insCGCTTTTTTTTTTCTCTCTCTCT	NCBI36
NG_007098.2:g.383416_383417insCGCTTTTTTTTTTCTCTCTCTCT , LRG_351:g.383416_383417insCGCTTTTTTTTTTCTCTCTCTCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355155.6:c.3056_3057insCGCTTTTTTTTTTCTCTCTCTCT	ENSP00000347281.2:p.Val1020AlafsTer9
ENST00000682145.1:n.2936_2937insCGCTTTTTTTTTTCTCTCTCTCT
ENST00000682153.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	ENSP00000507923.1:p.Val1021AlafsTer9
ENST00000682234.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	ENSP00000508225.1:p.Val1021AlafsTer9
ENST00000682358.1:n.3129_3130insCGCTTTTTTTTTTCTCTCTCTCT
ENST00000683334.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	ENSP00000507369.1:p.Val1021AlafsTer9
ENST00000683486.1:n.3125_3126insCGCTTTTTTTTTTCTCTCTCTCT
ENST00000683619.1:n.3231_3232insCGCTTTTTTTTTTCTCTCTCTCT
ENST00000683869.1:n.3140_3141insCGCTTTTTTTTTTCTCTCTCTCT
ENST00000357162.7:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT MANE Select	ENSP00000349685.2:p.Val1021AlafsTer9
ENST00000358544.7:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT MANE Plus Clinical	ENSP00000351346.2:p.Val1021AlafsTer9
ENST00000357162.6:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	ENSP00000349685.2:p.Val1021AlafsTer9
ENST00000358544.6:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	ENSP00000351346.2:p.Val1021AlafsTer9
ENST00000496144.5:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	ENSP00000430900.1:p.Val1021AlafsTer9
ENST00000521037.1:n.230_231insCGCTTTTTTTTTTCTCTCTCTCT
ENST00000522802.5:n.281_282insCGCTTTTTTTTTTCTCTCTCTCT
NM_017890.4:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT , LRG_351t1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	NP_060360.3:p.Val1021AlafsTer9
NM_152564.4:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT , LRG_351t2:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	NP_689777.3:p.Val1021AlafsTer9
XM_005250800.2:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_005250857.1:p.Val1021AlafsTer9
XM_005250801.3:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_005250858.1:p.Val1021AlafsTer9
XM_006716510.2:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_006716573.1:p.Val1021AlafsTer9
XM_011516848.1:c.3056_3057insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515150.1:p.Val1020AlafsTer9
XM_011516849.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515151.1:p.Val1021AlafsTer9
XM_011516850.1:c.2681_2682insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515152.1:p.Val895AlafsTer9
XM_011516851.1:c.-72_-71insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515153.1:n.-72_-71insCGCTTTTTTTTTTCTCTCTCTCT
XM_011516853.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515155.1:p.Val1021AlafsTer9
XM_011516855.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515157.1:p.Val1021AlafsTer9
XM_011516856.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515158.1:p.Val1021AlafsTer9
XM_011516857.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515159.1:p.Val1021AlafsTer9
XM_011516858.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515160.1:p.Val1021AlafsTer9
XM_011516859.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515161.1:p.Val1021AlafsTer9
XM_011516860.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515162.1:p.Val1021AlafsTer9
XM_011516861.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515163.1:p.Val1021AlafsTer9
XR_928301.1:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XR_928302.1:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XR_928303.1:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XR_928304.1:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XM_005250800.3:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_005250857.1:p.Val1021AlafsTer9
XM_005250801.5:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_005250858.1:p.Val1021AlafsTer9
XM_006716510.3:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_006716573.1:p.Val1021AlafsTer9
XM_011516848.2:c.3056_3057insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515150.1:p.Val1020AlafsTer9
XM_011516849.2:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515151.1:p.Val1021AlafsTer9
XM_011516850.2:c.2681_2682insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515152.1:p.Val895AlafsTer9
XM_011516851.2:c.-72_-71insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515153.1:n.-72_-71insCGCTTTTTTTTTTCTCTCTCTCT
XM_011516853.2:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515155.1:p.Val1021AlafsTer9
XM_011516859.2:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_011515161.1:p.Val1021AlafsTer9
XM_017013109.1:c.2864_2865insCGCTTTTTTTTTTCTCTCTCTCT	XP_016868598.1:p.Val956AlafsTer9
XM_024447074.1:c.1844_1845insCGCTTTTTTTTTTCTCTCTCTCT	XP_024302842.1:p.Val616AlafsTer9
XM_024447075.1:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT	XP_024302843.1:p.Val1021AlafsTer9
XR_001745481.1:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XR_001745482.2:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XR_001745484.2:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XR_002956601.1:n.3159_3160insCGCTTTTTTTTTTCTCTCTCTCT
XR_002956602.1:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
XR_928302.2:n.3162_3163insCGCTTTTTTTTTTCTCTCTCTCT
NM_017890.5:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT MANE Plus Clinical	NP_060360.3:p.Val1021AlafsTer9
NM_152564.5:c.3059_3060insCGCTTTTTTTTTTCTCTCTCTCT MANE Select	NP_689777.3:p.Val1021AlafsTer9