Canonical Allele Identifier: CA2781476762

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717385_99717389del , CM000670.2:g.99717385_99717389del	GRCh38
NC_000008.10:g.100729613_100729617del , CM000670.1:g.100729613_100729617del	GRCh37
NC_000008.9:g.100798789_100798793del	NCBI36
NG_007098.2:g.709120_709124del , LRG_351:g.709120_709124del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6732+12_6732+16del	ENSP00000507923.1:n.6732+12_6732+16del
ENST00000682358.1:n.6802+12_6802+16del
ENST00000683334.1:c.*2414+12_*2414+16del	ENSP00000507369.1:n.*2414+12_*2414+16del
ENST00000357162.7:c.6657+12_6657+16del MANE Select	ENSP00000349685.2:n.6657+12_6657+16del
ENST00000358544.7:c.6732+12_6732+16del MANE Plus Clinical	ENSP00000351346.2:n.6732+12_6732+16del
ENST00000357162.6:c.6657+12_6657+16del	ENSP00000349685.2:n.6657+12_6657+16del
ENST00000358544.6:c.6732+12_6732+16del	ENSP00000351346.2:n.6732+12_6732+16del
NM_017890.4:c.6732+12_6732+16del , LRG_351t1:c.6732+12_6732+16del	NP_060360.3:n.6732+12_6732+16del
NM_152564.4:c.6657+12_6657+16del , LRG_351t2:c.6657+12_6657+16del	NP_689777.3:n.6657+12_6657+16del
XM_005250800.2:c.6732+12_6732+16del	XP_005250857.1:n.6732+12_6732+16del
XM_005250801.3:c.6732+12_6732+16del	XP_005250858.1:n.6732+12_6732+16del
XM_011516848.1:c.6729+12_6729+16del	XP_011515150.1:n.6729+12_6729+16del
XM_011516849.1:c.6654+12_6654+16del	XP_011515151.1:n.6654+12_6654+16del
XM_011516850.1:c.6354+12_6354+16del	XP_011515152.1:n.6354+12_6354+16del
XM_011516851.1:c.3618+12_3618+16del	XP_011515153.1:n.3618+12_3618+16del
XM_011516852.1:c.3618+12_3618+16del	XP_011515154.1:n.3618+12_3618+16del
XM_011516853.1:c.6732+12_6732+16del	XP_011515155.1:n.6732+12_6732+16del
XM_011516854.1:c.2511+12_2511+16del	XP_011515156.1:n.2511+12_2511+16del
XM_005250800.3:c.6732+12_6732+16del	XP_005250857.1:n.6732+12_6732+16del
XM_005250801.5:c.6732+12_6732+16del	XP_005250858.1:n.6732+12_6732+16del
XM_011516848.2:c.6729+12_6729+16del	XP_011515150.1:n.6729+12_6729+16del
XM_011516849.2:c.6654+12_6654+16del	XP_011515151.1:n.6654+12_6654+16del
XM_011516850.2:c.6354+12_6354+16del	XP_011515152.1:n.6354+12_6354+16del
XM_011516851.2:c.3618+12_3618+16del	XP_011515153.1:n.3618+12_3618+16del
XM_011516852.2:c.3618+12_3618+16del	XP_011515154.1:n.3618+12_3618+16del
XM_011516853.2:c.6732+12_6732+16del	XP_011515155.1:n.6732+12_6732+16del
XM_011516854.2:c.2511+12_2511+16del	XP_011515156.1:n.2511+12_2511+16del
XM_017013109.1:c.6537+12_6537+16del	XP_016868598.1:n.6537+12_6537+16del
XM_017013111.1:c.3618+12_3618+16del	XP_016868600.1:n.3618+12_3618+16del
XM_017013112.1:c.2289+12_2289+16del	XP_016868601.1:n.2289+12_2289+16del
XM_024447074.1:c.5517+12_5517+16del	XP_024302842.1:n.5517+12_5517+16del
NM_017890.5:c.6732+12_6732+16del MANE Plus Clinical	NP_060360.3:n.6732+12_6732+16del
NM_152564.5:c.6657+12_6657+16del MANE Select	NP_689777.3:n.6657+12_6657+16del