Canonical Allele Identifier: CA1805821130

Gene: VPS13B

Linked Data

• dbSNP Id: rs1829392085

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99642076_99642077del , CM000670.2:g.99642076_99642077del	GRCh38
NC_000008.10:g.100654304_100654305del , CM000670.1:g.100654304_100654305del	GRCh37
NC_000008.9:g.100723480_100723481del	NCBI36
NG_007098.2:g.633811_633812del , LRG_351:g.633811_633812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.5561_5562del	ENSP00000507923.1:p.Met1854SerfsTer13
ENST00000682358.1:n.5631_5632del
ENST00000683334.1:c.*1243_*1244del	ENSP00000507369.1:n.*1243_*1244del
ENST00000357162.7:c.5486_5487del MANE Select	ENSP00000349685.2:p.Met1829SerfsTer13
ENST00000358544.7:c.5561_5562del MANE Plus Clinical	ENSP00000351346.2:p.Met1854SerfsTer13
ENST00000357162.6:c.5486_5487del	ENSP00000349685.2:p.Met1829SerfsTer13
ENST00000358544.6:c.5561_5562del	ENSP00000351346.2:p.Met1854SerfsTer13
NM_017890.4:c.5561_5562del , LRG_351t1:c.5561_5562del	NP_060360.3:p.Met1854SerfsTer13
NM_152564.4:c.5486_5487del , LRG_351t2:c.5486_5487del	NP_689777.3:p.Met1829SerfsTer13
XM_005250800.2:c.5561_5562del	XP_005250857.1:p.Met1854SerfsTer13
XM_005250801.3:c.5561_5562del	XP_005250858.1:p.Met1854SerfsTer13
XM_011516848.1:c.5558_5559del	XP_011515150.1:p.Met1853SerfsTer13
XM_011516849.1:c.5483_5484del	XP_011515151.1:p.Met1828SerfsTer13
XM_011516850.1:c.5183_5184del	XP_011515152.1:p.Met1728SerfsTer13
XM_011516851.1:c.2447_2448del	XP_011515153.1:p.Met816SerfsTer13
XM_011516852.1:c.2447_2448del	XP_011515154.1:p.Met816SerfsTer13
XM_011516853.1:c.5561_5562del	XP_011515155.1:p.Met1854SerfsTer13
XM_011516854.1:c.1340_1341del	XP_011515156.1:p.Met447SerfsTer13
XM_005250800.3:c.5561_5562del	XP_005250857.1:p.Met1854SerfsTer13
XM_005250801.5:c.5561_5562del	XP_005250858.1:p.Met1854SerfsTer13
XM_011516848.2:c.5558_5559del	XP_011515150.1:p.Met1853SerfsTer13
XM_011516849.2:c.5483_5484del	XP_011515151.1:p.Met1828SerfsTer13
XM_011516850.2:c.5183_5184del	XP_011515152.1:p.Met1728SerfsTer13
XM_011516851.2:c.2447_2448del	XP_011515153.1:p.Met816SerfsTer13
XM_011516852.2:c.2447_2448del	XP_011515154.1:p.Met816SerfsTer13
XM_011516853.2:c.5561_5562del	XP_011515155.1:p.Met1854SerfsTer13
XM_011516854.2:c.1340_1341del	XP_011515156.1:p.Met447SerfsTer13
XM_017013109.1:c.5366_5367del	XP_016868598.1:p.Met1789SerfsTer13
XM_017013111.1:c.2447_2448del	XP_016868600.1:p.Met816SerfsTer13
XM_017013112.1:c.1118_1119del	XP_016868601.1:p.Met373SerfsTer13
XM_024447074.1:c.4346_4347del	XP_024302842.1:p.Met1449SerfsTer13
XR_001745482.2:n.5522_5523del
NM_017890.5:c.5561_5562del MANE Plus Clinical	NP_060360.3:p.Met1854SerfsTer13
NM_152564.5:c.5486_5487del MANE Select	NP_689777.3:p.Met1829SerfsTer13