Canonical Allele Identifier: CA4824054

Gene: VPS13B

Linked Data

• dbSNP Id: rs762601150
• ExAC: 8:100729629 CATAGGTT / C
• gnomAD v2: 8-100729629-CATAGGTT-C
• gnomAD v3: 8-99717401-CATAGGTT-C
• gnomAD v4: 8-99717401-CATAGGTT-C
• MyVariant Identifiers: chr8:g.100729630_100729636del (hg19) ; chr8:g.99717402_99717408del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99717404_99717410del , CM000670.2:g.99717404_99717410del	GRCh38
NC_000008.10:g.100729632_100729638del , CM000670.1:g.100729632_100729638del	GRCh37
NC_000008.9:g.100798808_100798814del	NCBI36
NG_007098.2:g.709139_709145del , LRG_351:g.709139_709145del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.6732+31_6732+37del	ENSP00000507923.1:n.6732+31_6732+37del
ENST00000682358.1:n.6802+31_6802+37del
ENST00000683334.1:c.*2414+31_*2414+37del	ENSP00000507369.1:n.*2414+31_*2414+37del
ENST00000357162.7:c.6657+31_6657+37del MANE Select	ENSP00000349685.2:n.6657+31_6657+37del
ENST00000358544.7:c.6732+31_6732+37del MANE Plus Clinical	ENSP00000351346.2:n.6732+31_6732+37del
ENST00000357162.6:c.6657+31_6657+37del	ENSP00000349685.2:n.6657+31_6657+37del
ENST00000358544.6:c.6732+31_6732+37del	ENSP00000351346.2:n.6732+31_6732+37del
NM_017890.4:c.6732+31_6732+37del , LRG_351t1:c.6732+31_6732+37del	NP_060360.3:n.6732+31_6732+37del
NM_152564.4:c.6657+31_6657+37del , LRG_351t2:c.6657+31_6657+37del	NP_689777.3:n.6657+31_6657+37del
XM_005250800.2:c.6732+31_6732+37del	XP_005250857.1:n.6732+31_6732+37del
XM_005250801.3:c.6732+31_6732+37del	XP_005250858.1:n.6732+31_6732+37del
XM_011516848.1:c.6729+31_6729+37del	XP_011515150.1:n.6729+31_6729+37del
XM_011516849.1:c.6654+31_6654+37del	XP_011515151.1:n.6654+31_6654+37del
XM_011516850.1:c.6354+31_6354+37del	XP_011515152.1:n.6354+31_6354+37del
XM_011516851.1:c.3618+31_3618+37del	XP_011515153.1:n.3618+31_3618+37del
XM_011516852.1:c.3618+31_3618+37del	XP_011515154.1:n.3618+31_3618+37del
XM_011516853.1:c.6732+31_6732+37del	XP_011515155.1:n.6732+31_6732+37del
XM_011516854.1:c.2511+31_2511+37del	XP_011515156.1:n.2511+31_2511+37del
XM_005250800.3:c.6732+31_6732+37del	XP_005250857.1:n.6732+31_6732+37del
XM_005250801.5:c.6732+31_6732+37del	XP_005250858.1:n.6732+31_6732+37del
XM_011516848.2:c.6729+31_6729+37del	XP_011515150.1:n.6729+31_6729+37del
XM_011516849.2:c.6654+31_6654+37del	XP_011515151.1:n.6654+31_6654+37del
XM_011516850.2:c.6354+31_6354+37del	XP_011515152.1:n.6354+31_6354+37del
XM_011516851.2:c.3618+31_3618+37del	XP_011515153.1:n.3618+31_3618+37del
XM_011516852.2:c.3618+31_3618+37del	XP_011515154.1:n.3618+31_3618+37del
XM_011516853.2:c.6732+31_6732+37del	XP_011515155.1:n.6732+31_6732+37del
XM_011516854.2:c.2511+31_2511+37del	XP_011515156.1:n.2511+31_2511+37del
XM_017013109.1:c.6537+31_6537+37del	XP_016868598.1:n.6537+31_6537+37del
XM_017013111.1:c.3618+31_3618+37del	XP_016868600.1:n.3618+31_3618+37del
XM_017013112.1:c.2289+31_2289+37del	XP_016868601.1:n.2289+31_2289+37del
XM_024447074.1:c.5517+31_5517+37del	XP_024302842.1:n.5517+31_5517+37del
NM_017890.5:c.6732+31_6732+37del MANE Plus Clinical	NP_060360.3:n.6732+31_6732+37del
NM_152564.5:c.6657+31_6657+37del MANE Select	NP_689777.3:n.6657+31_6657+37del