Canonical Allele Identifier: CA2781476163

Gene: VPS13B

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.99819672_99819675del , CM000670.2:g.99819672_99819675del	GRCh38
NC_000008.10:g.100831900_100831903del , CM000670.1:g.100831900_100831903del	GRCh37
NC_000008.9:g.100901076_100901079del	NCBI36
NG_007098.2:g.811407_811410del , LRG_351:g.811407_811410del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682153.1:c.8867+90_8867+93del	ENSP00000507923.1:n.8867+90_8867+93del
ENST00000682358.1:n.8937+90_8937+93del
ENST00000683334.1:c.*4549+90_*4549+93del	ENSP00000507369.1:n.*4549+90_*4549+93del
ENST00000357162.7:c.8792+90_8792+93del MANE Select	ENSP00000349685.2:n.8792+90_8792+93del
ENST00000358544.7:c.8867+90_8867+93del MANE Plus Clinical	ENSP00000351346.2:n.8867+90_8867+93del
ENST00000357162.6:c.8792+90_8792+93del	ENSP00000349685.2:n.8792+90_8792+93del
ENST00000358544.6:c.8867+90_8867+93del	ENSP00000351346.2:n.8867+90_8867+93del
NM_017890.4:c.8867+90_8867+93del , LRG_351t1:c.8867+90_8867+93del	NP_060360.3:n.8867+90_8867+93del
NM_152564.4:c.8792+90_8792+93del , LRG_351t2:c.8792+90_8792+93del	NP_689777.3:n.8792+90_8792+93del
XM_005250800.2:c.8867+90_8867+93del	XP_005250857.1:n.8867+90_8867+93del
XM_005250801.3:c.8867+90_8867+93del	XP_005250858.1:n.8867+90_8867+93del
XM_011516848.1:c.8864+90_8864+93del	XP_011515150.1:n.8864+90_8864+93del
XM_011516849.1:c.8789+90_8789+93del	XP_011515151.1:n.8789+90_8789+93del
XM_011516850.1:c.8489+90_8489+93del	XP_011515152.1:n.8489+90_8489+93del
XM_011516851.1:c.5753+90_5753+93del	XP_011515153.1:n.5753+90_5753+93del
XM_011516852.1:c.5753+90_5753+93del	XP_011515154.1:n.5753+90_5753+93del
XM_011516854.1:c.4646+90_4646+93del	XP_011515156.1:n.4646+90_4646+93del
XM_005250800.3:c.8867+90_8867+93del	XP_005250857.1:n.8867+90_8867+93del
XM_005250801.5:c.8867+90_8867+93del	XP_005250858.1:n.8867+90_8867+93del
XM_011516848.2:c.8864+90_8864+93del	XP_011515150.1:n.8864+90_8864+93del
XM_011516849.2:c.8789+90_8789+93del	XP_011515151.1:n.8789+90_8789+93del
XM_011516850.2:c.8489+90_8489+93del	XP_011515152.1:n.8489+90_8489+93del
XM_011516851.2:c.5753+90_5753+93del	XP_011515153.1:n.5753+90_5753+93del
XM_011516852.2:c.5753+90_5753+93del	XP_011515154.1:n.5753+90_5753+93del
XM_011516854.2:c.4646+90_4646+93del	XP_011515156.1:n.4646+90_4646+93del
XM_017013109.1:c.8672+90_8672+93del	XP_016868598.1:n.8672+90_8672+93del
XM_017013111.1:c.5753+90_5753+93del	XP_016868600.1:n.5753+90_5753+93del
XM_017013112.1:c.4424+90_4424+93del	XP_016868601.1:n.4424+90_4424+93del
XM_024447074.1:c.7652+90_7652+93del	XP_024302842.1:n.7652+90_7652+93del
NM_017890.5:c.8867+90_8867+93del MANE Plus Clinical	NP_060360.3:n.8867+90_8867+93del
NM_152564.5:c.8792+90_8792+93del MANE Select	NP_689777.3:n.8792+90_8792+93del