Canonical Allele Identifier: CA1117103492

Gene: VPS13B

Linked Data

• gnomAD v3: 8-99699131-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATT
• gnomAD v4: 8-99699131-C-CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATT

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99699155_99699156insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT , CM000670.2:g.99699155_99699156insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh38
NC_000008.10:g.100711383_100711384insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT , CM000670.1:g.100711383_100711384insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	GRCh37
NC_000008.9:g.100780559_100780560insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	NCBI36
NG_007098.2:g.690890_690891insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_351:g.690890_690891insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507923.1:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTT...
ENST00000682358.1:n.6192-370_6192-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
ENST00000683334.1:c.*1804-370_*1804-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000507369.1:n.*1804-370_*1804-369insTTTTTTTATTTTTTTTTTT...
ENST00000357162.7:c.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	ENSP00000349685.2:n.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTT...
ENST00000358544.7:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT MANE Plus Clinical	ENSP00000351346.2:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTT...
ENST00000357162.6:c.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000349685.2:n.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTT...
ENST00000358544.6:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	ENSP00000351346.2:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTT...
NM_017890.4:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_351t1:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	NP_060360.3:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTT...
NM_152564.4:c.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT , LRG_351t2:c.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	NP_689777.3:n.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTT...
XM_005250800.2:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005250857.1:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_005250801.3:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005250858.1:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516848.1:c.6119-370_6119-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515150.1:n.6119-370_6119-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516849.1:c.6044-370_6044-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515151.1:n.6044-370_6044-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516850.1:c.5744-370_5744-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515152.1:n.5744-370_5744-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516851.1:c.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515153.1:n.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516852.1:c.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515154.1:n.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516853.1:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515155.1:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516854.1:c.1901-370_1901-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515156.1:n.1901-370_1901-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_005250800.3:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005250857.1:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_005250801.5:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_005250858.1:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516848.2:c.6119-370_6119-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515150.1:n.6119-370_6119-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516849.2:c.6044-370_6044-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515151.1:n.6044-370_6044-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516850.2:c.5744-370_5744-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515152.1:n.5744-370_5744-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516851.2:c.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515153.1:n.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516852.2:c.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515154.1:n.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516853.2:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515155.1:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_011516854.2:c.1901-370_1901-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_011515156.1:n.1901-370_1901-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_017013109.1:c.5927-370_5927-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016868598.1:n.5927-370_5927-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_017013111.1:c.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016868600.1:n.3008-370_3008-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_017013112.1:c.1679-370_1679-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_016868601.1:n.1679-370_1679-369insTTTTTTTATTTTTTTTTTTTTTTT...
XM_024447074.1:c.4907-370_4907-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT	XP_024302842.1:n.4907-370_4907-369insTTTTTTTATTTTTTTTTTTTTTTT...
XR_001745482.2:n.6083-370_6083-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT
NM_017890.5:c.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT MANE Plus Clinical	NP_060360.3:n.6122-370_6122-369insTTTTTTTATTTTTTTTTTTTTTTTTTT...
NM_152564.5:c.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select	NP_689777.3:n.6047-370_6047-369insTTTTTTTATTTTTTTTTTTTTTTTTTT...