Canonical Allele Identifier: CA1805814692

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699438_99699440delinsCTT , CM000670.2:g.99699438_99699440delinsCTT	GRCh38
NC_000008.10:g.100711666_100711668delinsCTT , CM000670.1:g.100711666_100711668delinsCTT	GRCh37
NC_000008.9:g.100780842_100780844delinsCTT	NCBI36
NG_007098.2:g.691173_691175delinsCTT , LRG_351:g.691173_691175delinsCTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-87_6122-85delinsCTT	ENSP00000507923.1:n.6122-87_6122-85delinsCTT
ENST00000682358.1:n.6192-87_6192-85delinsCTT
ENST00000683334.1:c.*1804-87_*1804-85delinsCTT	ENSP00000507369.1:n.*1804-87_*1804-85delinsCTT
ENST00000357162.7:c.6047-87_6047-85delinsCTT MANE Select	ENSP00000349685.2:n.6047-87_6047-85delinsCTT
ENST00000358544.7:c.6122-87_6122-85delinsCTT MANE Plus Clinical	ENSP00000351346.2:n.6122-87_6122-85delinsCTT
ENST00000357162.6:c.6047-87_6047-85delinsCTT	ENSP00000349685.2:n.6047-87_6047-85delinsCTT
ENST00000358544.6:c.6122-87_6122-85delinsCTT	ENSP00000351346.2:n.6122-87_6122-85delinsCTT
NM_017890.4:c.6122-87_6122-85delinsCTT , LRG_351t1:c.6122-87_6122-85delinsCTT	NP_060360.3:n.6122-87_6122-85delinsCTT
NM_152564.4:c.6047-87_6047-85delinsCTT , LRG_351t2:c.6047-87_6047-85delinsCTT	NP_689777.3:n.6047-87_6047-85delinsCTT
XM_005250800.2:c.6122-87_6122-85delinsCTT	XP_005250857.1:n.6122-87_6122-85delinsCTT
XM_005250801.3:c.6122-87_6122-85delinsCTT	XP_005250858.1:n.6122-87_6122-85delinsCTT
XM_011516848.1:c.6119-87_6119-85delinsCTT	XP_011515150.1:n.6119-87_6119-85delinsCTT
XM_011516849.1:c.6044-87_6044-85delinsCTT	XP_011515151.1:n.6044-87_6044-85delinsCTT
XM_011516850.1:c.5744-87_5744-85delinsCTT	XP_011515152.1:n.5744-87_5744-85delinsCTT
XM_011516851.1:c.3008-87_3008-85delinsCTT	XP_011515153.1:n.3008-87_3008-85delinsCTT
XM_011516852.1:c.3008-87_3008-85delinsCTT	XP_011515154.1:n.3008-87_3008-85delinsCTT
XM_011516853.1:c.6122-87_6122-85delinsCTT	XP_011515155.1:n.6122-87_6122-85delinsCTT
XM_011516854.1:c.1901-87_1901-85delinsCTT	XP_011515156.1:n.1901-87_1901-85delinsCTT
XM_005250800.3:c.6122-87_6122-85delinsCTT	XP_005250857.1:n.6122-87_6122-85delinsCTT
XM_005250801.5:c.6122-87_6122-85delinsCTT	XP_005250858.1:n.6122-87_6122-85delinsCTT
XM_011516848.2:c.6119-87_6119-85delinsCTT	XP_011515150.1:n.6119-87_6119-85delinsCTT
XM_011516849.2:c.6044-87_6044-85delinsCTT	XP_011515151.1:n.6044-87_6044-85delinsCTT
XM_011516850.2:c.5744-87_5744-85delinsCTT	XP_011515152.1:n.5744-87_5744-85delinsCTT
XM_011516851.2:c.3008-87_3008-85delinsCTT	XP_011515153.1:n.3008-87_3008-85delinsCTT
XM_011516852.2:c.3008-87_3008-85delinsCTT	XP_011515154.1:n.3008-87_3008-85delinsCTT
XM_011516853.2:c.6122-87_6122-85delinsCTT	XP_011515155.1:n.6122-87_6122-85delinsCTT
XM_011516854.2:c.1901-87_1901-85delinsCTT	XP_011515156.1:n.1901-87_1901-85delinsCTT
XM_017013109.1:c.5927-87_5927-85delinsCTT	XP_016868598.1:n.5927-87_5927-85delinsCTT
XM_017013111.1:c.3008-87_3008-85delinsCTT	XP_016868600.1:n.3008-87_3008-85delinsCTT
XM_017013112.1:c.1679-87_1679-85delinsCTT	XP_016868601.1:n.1679-87_1679-85delinsCTT
XM_024447074.1:c.4907-87_4907-85delinsCTT	XP_024302842.1:n.4907-87_4907-85delinsCTT
XR_001745482.2:n.6083-87_6083-85delinsCTT
NM_017890.5:c.6122-87_6122-85delinsCTT MANE Plus Clinical	NP_060360.3:n.6122-87_6122-85delinsCTT
NM_152564.5:c.6047-87_6047-85delinsCTT MANE Select	NP_689777.3:n.6047-87_6047-85delinsCTT