Canonical Allele Identifier: CA1805814246

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699151_99699156delinsTTTTTG , CM000670.2:g.99699151_99699156delinsTTTTTG	GRCh38
NC_000008.10:g.100711379_100711384delinsTTTTTG , CM000670.1:g.100711379_100711384delinsTTTTTG	GRCh37
NC_000008.9:g.100780555_100780560delinsTTTTTG	NCBI36
NG_007098.2:g.690886_690891delinsTTTTTG , LRG_351:g.690886_690891delinsTTTTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-374_6122-369delinsTTTTTG	ENSP00000507923.1:n.6122-374_6122-369delinsTTTTTG
ENST00000682358.1:n.6192-374_6192-369delinsTTTTTG
ENST00000683334.1:c.*1804-374_*1804-369delinsTTTTTG	ENSP00000507369.1:n.*1804-374_*1804-369delinsTTTTTG
ENST00000357162.7:c.6047-374_6047-369delinsTTTTTG MANE Select	ENSP00000349685.2:n.6047-374_6047-369delinsTTTTTG
ENST00000358544.7:c.6122-374_6122-369delinsTTTTTG MANE Plus Clinical	ENSP00000351346.2:n.6122-374_6122-369delinsTTTTTG
ENST00000357162.6:c.6047-374_6047-369delinsTTTTTG	ENSP00000349685.2:n.6047-374_6047-369delinsTTTTTG
ENST00000358544.6:c.6122-374_6122-369delinsTTTTTG	ENSP00000351346.2:n.6122-374_6122-369delinsTTTTTG
NM_017890.4:c.6122-374_6122-369delinsTTTTTG , LRG_351t1:c.6122-374_6122-369delinsTTTTTG	NP_060360.3:n.6122-374_6122-369delinsTTTTTG
NM_152564.4:c.6047-374_6047-369delinsTTTTTG , LRG_351t2:c.6047-374_6047-369delinsTTTTTG	NP_689777.3:n.6047-374_6047-369delinsTTTTTG
XM_005250800.2:c.6122-374_6122-369delinsTTTTTG	XP_005250857.1:n.6122-374_6122-369delinsTTTTTG
XM_005250801.3:c.6122-374_6122-369delinsTTTTTG	XP_005250858.1:n.6122-374_6122-369delinsTTTTTG
XM_011516848.1:c.6119-374_6119-369delinsTTTTTG	XP_011515150.1:n.6119-374_6119-369delinsTTTTTG
XM_011516849.1:c.6044-374_6044-369delinsTTTTTG	XP_011515151.1:n.6044-374_6044-369delinsTTTTTG
XM_011516850.1:c.5744-374_5744-369delinsTTTTTG	XP_011515152.1:n.5744-374_5744-369delinsTTTTTG
XM_011516851.1:c.3008-374_3008-369delinsTTTTTG	XP_011515153.1:n.3008-374_3008-369delinsTTTTTG
XM_011516852.1:c.3008-374_3008-369delinsTTTTTG	XP_011515154.1:n.3008-374_3008-369delinsTTTTTG
XM_011516853.1:c.6122-374_6122-369delinsTTTTTG	XP_011515155.1:n.6122-374_6122-369delinsTTTTTG
XM_011516854.1:c.1901-374_1901-369delinsTTTTTG	XP_011515156.1:n.1901-374_1901-369delinsTTTTTG
XM_005250800.3:c.6122-374_6122-369delinsTTTTTG	XP_005250857.1:n.6122-374_6122-369delinsTTTTTG
XM_005250801.5:c.6122-374_6122-369delinsTTTTTG	XP_005250858.1:n.6122-374_6122-369delinsTTTTTG
XM_011516848.2:c.6119-374_6119-369delinsTTTTTG	XP_011515150.1:n.6119-374_6119-369delinsTTTTTG
XM_011516849.2:c.6044-374_6044-369delinsTTTTTG	XP_011515151.1:n.6044-374_6044-369delinsTTTTTG
XM_011516850.2:c.5744-374_5744-369delinsTTTTTG	XP_011515152.1:n.5744-374_5744-369delinsTTTTTG
XM_011516851.2:c.3008-374_3008-369delinsTTTTTG	XP_011515153.1:n.3008-374_3008-369delinsTTTTTG
XM_011516852.2:c.3008-374_3008-369delinsTTTTTG	XP_011515154.1:n.3008-374_3008-369delinsTTTTTG
XM_011516853.2:c.6122-374_6122-369delinsTTTTTG	XP_011515155.1:n.6122-374_6122-369delinsTTTTTG
XM_011516854.2:c.1901-374_1901-369delinsTTTTTG	XP_011515156.1:n.1901-374_1901-369delinsTTTTTG
XM_017013109.1:c.5927-374_5927-369delinsTTTTTG	XP_016868598.1:n.5927-374_5927-369delinsTTTTTG
XM_017013111.1:c.3008-374_3008-369delinsTTTTTG	XP_016868600.1:n.3008-374_3008-369delinsTTTTTG
XM_017013112.1:c.1679-374_1679-369delinsTTTTTG	XP_016868601.1:n.1679-374_1679-369delinsTTTTTG
XM_024447074.1:c.4907-374_4907-369delinsTTTTTG	XP_024302842.1:n.4907-374_4907-369delinsTTTTTG
XR_001745482.2:n.6083-374_6083-369delinsTTTTTG
NM_017890.5:c.6122-374_6122-369delinsTTTTTG MANE Plus Clinical	NP_060360.3:n.6122-374_6122-369delinsTTTTTG
NM_152564.5:c.6047-374_6047-369delinsTTTTTG MANE Select	NP_689777.3:n.6047-374_6047-369delinsTTTTTG