Canonical Allele Identifier: CA2688070164

Gene: VPS13B

Linked Data

• gnomAD v4: 8-99819690-TTCTTACCTTTTATCATCTAGTAGGTGTATTTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819692_99819724del , CM000670.2:g.99819692_99819724del	GRCh38
NC_000008.10:g.100831920_100831952del , CM000670.1:g.100831920_100831952del	GRCh37
NC_000008.9:g.100901096_100901128del	NCBI36
NG_007098.2:g.811427_811459del , LRG_351:g.811427_811459del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8867+110_8867+142del	ENSP00000507923.1:n.8867+110_8867+142del
ENST00000682358.1:n.8937+110_8937+142del
ENST00000683334.1:c.*4549+110_*4549+142del	ENSP00000507369.1:n.*4549+110_*4549+142del
ENST00000357162.7:c.8792+110_8792+142del MANE Select	ENSP00000349685.2:n.8792+110_8792+142del
ENST00000358544.7:c.8867+110_8867+142del MANE Plus Clinical	ENSP00000351346.2:n.8867+110_8867+142del
ENST00000357162.6:c.8792+110_8792+142del	ENSP00000349685.2:n.8792+110_8792+142del
ENST00000358544.6:c.8867+110_8867+142del	ENSP00000351346.2:n.8867+110_8867+142del
NM_017890.4:c.8867+110_8867+142del , LRG_351t1:c.8867+110_8867+142del	NP_060360.3:n.8867+110_8867+142del
NM_152564.4:c.8792+110_8792+142del , LRG_351t2:c.8792+110_8792+142del	NP_689777.3:n.8792+110_8792+142del
XM_005250800.2:c.8867+110_8867+142del	XP_005250857.1:n.8867+110_8867+142del
XM_005250801.3:c.8867+110_8867+142del	XP_005250858.1:n.8867+110_8867+142del
XM_011516848.1:c.8864+110_8864+142del	XP_011515150.1:n.8864+110_8864+142del
XM_011516849.1:c.8789+110_8789+142del	XP_011515151.1:n.8789+110_8789+142del
XM_011516850.1:c.8489+110_8489+142del	XP_011515152.1:n.8489+110_8489+142del
XM_011516851.1:c.5753+110_5753+142del	XP_011515153.1:n.5753+110_5753+142del
XM_011516852.1:c.5753+110_5753+142del	XP_011515154.1:n.5753+110_5753+142del
XM_011516854.1:c.4646+110_4646+142del	XP_011515156.1:n.4646+110_4646+142del
XM_005250800.3:c.8867+110_8867+142del	XP_005250857.1:n.8867+110_8867+142del
XM_005250801.5:c.8867+110_8867+142del	XP_005250858.1:n.8867+110_8867+142del
XM_011516848.2:c.8864+110_8864+142del	XP_011515150.1:n.8864+110_8864+142del
XM_011516849.2:c.8789+110_8789+142del	XP_011515151.1:n.8789+110_8789+142del
XM_011516850.2:c.8489+110_8489+142del	XP_011515152.1:n.8489+110_8489+142del
XM_011516851.2:c.5753+110_5753+142del	XP_011515153.1:n.5753+110_5753+142del
XM_011516852.2:c.5753+110_5753+142del	XP_011515154.1:n.5753+110_5753+142del
XM_011516854.2:c.4646+110_4646+142del	XP_011515156.1:n.4646+110_4646+142del
XM_017013109.1:c.8672+110_8672+142del	XP_016868598.1:n.8672+110_8672+142del
XM_017013111.1:c.5753+110_5753+142del	XP_016868600.1:n.5753+110_5753+142del
XM_017013112.1:c.4424+110_4424+142del	XP_016868601.1:n.4424+110_4424+142del
XM_024447074.1:c.7652+110_7652+142del	XP_024302842.1:n.7652+110_7652+142del
NM_017890.5:c.8867+110_8867+142del MANE Plus Clinical	NP_060360.3:n.8867+110_8867+142del
NM_152564.5:c.8792+110_8792+142del MANE Select	NP_689777.3:n.8792+110_8792+142del