Canonical Allele Identifier: CA2501927531

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699142_99699155del , CM000670.2:g.99699142_99699155del	GRCh38
NC_000008.10:g.100711370_100711383del , CM000670.1:g.100711370_100711383del	GRCh37
NC_000008.9:g.100780546_100780559del	NCBI36
NG_007098.2:g.690877_690890del , LRG_351:g.690877_690890del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-383_6122-370del	ENSP00000507923.1:n.6122-383_6122-370del
ENST00000682358.1:n.6192-383_6192-370del
ENST00000683334.1:c.*1804-383_*1804-370del	ENSP00000507369.1:n.*1804-383_*1804-370del
ENST00000357162.7:c.6047-383_6047-370del MANE Select	ENSP00000349685.2:n.6047-383_6047-370del
ENST00000358544.7:c.6122-383_6122-370del MANE Plus Clinical	ENSP00000351346.2:n.6122-383_6122-370del
ENST00000357162.6:c.6047-383_6047-370del	ENSP00000349685.2:n.6047-383_6047-370del
ENST00000358544.6:c.6122-383_6122-370del	ENSP00000351346.2:n.6122-383_6122-370del
NM_017890.4:c.6122-383_6122-370del , LRG_351t1:c.6122-383_6122-370del	NP_060360.3:n.6122-383_6122-370del
NM_152564.4:c.6047-383_6047-370del , LRG_351t2:c.6047-383_6047-370del	NP_689777.3:n.6047-383_6047-370del
XM_005250800.2:c.6122-383_6122-370del	XP_005250857.1:n.6122-383_6122-370del
XM_005250801.3:c.6122-383_6122-370del	XP_005250858.1:n.6122-383_6122-370del
XM_011516848.1:c.6119-383_6119-370del	XP_011515150.1:n.6119-383_6119-370del
XM_011516849.1:c.6044-383_6044-370del	XP_011515151.1:n.6044-383_6044-370del
XM_011516850.1:c.5744-383_5744-370del	XP_011515152.1:n.5744-383_5744-370del
XM_011516851.1:c.3008-383_3008-370del	XP_011515153.1:n.3008-383_3008-370del
XM_011516852.1:c.3008-383_3008-370del	XP_011515154.1:n.3008-383_3008-370del
XM_011516853.1:c.6122-383_6122-370del	XP_011515155.1:n.6122-383_6122-370del
XM_011516854.1:c.1901-383_1901-370del	XP_011515156.1:n.1901-383_1901-370del
XM_005250800.3:c.6122-383_6122-370del	XP_005250857.1:n.6122-383_6122-370del
XM_005250801.5:c.6122-383_6122-370del	XP_005250858.1:n.6122-383_6122-370del
XM_011516848.2:c.6119-383_6119-370del	XP_011515150.1:n.6119-383_6119-370del
XM_011516849.2:c.6044-383_6044-370del	XP_011515151.1:n.6044-383_6044-370del
XM_011516850.2:c.5744-383_5744-370del	XP_011515152.1:n.5744-383_5744-370del
XM_011516851.2:c.3008-383_3008-370del	XP_011515153.1:n.3008-383_3008-370del
XM_011516852.2:c.3008-383_3008-370del	XP_011515154.1:n.3008-383_3008-370del
XM_011516853.2:c.6122-383_6122-370del	XP_011515155.1:n.6122-383_6122-370del
XM_011516854.2:c.1901-383_1901-370del	XP_011515156.1:n.1901-383_1901-370del
XM_017013109.1:c.5927-383_5927-370del	XP_016868598.1:n.5927-383_5927-370del
XM_017013111.1:c.3008-383_3008-370del	XP_016868600.1:n.3008-383_3008-370del
XM_017013112.1:c.1679-383_1679-370del	XP_016868601.1:n.1679-383_1679-370del
XM_024447074.1:c.4907-383_4907-370del	XP_024302842.1:n.4907-383_4907-370del
XR_001745482.2:n.6083-383_6083-370del
NM_017890.5:c.6122-383_6122-370del MANE Plus Clinical	NP_060360.3:n.6122-383_6122-370del
NM_152564.5:c.6047-383_6047-370del MANE Select	NP_689777.3:n.6047-383_6047-370del