Canonical Allele Identifier: CA2781476152
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819658_99819659insG , CM000670.2:g.99819658_99819659insG GRCh38
NC_000008.10:g.100831886_100831887insG , CM000670.1:g.100831886_100831887insG GRCh37
NC_000008.9:g.100901062_100901063insG NCBI36
NG_007098.2:g.811393_811394insG , LRG_351:g.811393_811394insG

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8867+76_8867+77insG ENSP00000507923.1:n.8867+76_8867+77insG
ENST00000682358.1:n.8937+76_8937+77insG
ENST00000683334.1:c.*4549+76_*4549+77insG ENSP00000507369.1:n.*4549+76_*4549+77insG
ENST00000357162.7:c.8792+76_8792+77insG MANE Select ENSP00000349685.2:n.8792+76_8792+77insG
ENST00000358544.7:c.8867+76_8867+77insG MANE Plus Clinical ENSP00000351346.2:n.8867+76_8867+77insG
ENST00000357162.6:c.8792+76_8792+77insG ENSP00000349685.2:n.8792+76_8792+77insG
ENST00000358544.6:c.8867+76_8867+77insG ENSP00000351346.2:n.8867+76_8867+77insG
NM_017890.4:c.8867+76_8867+77insG , LRG_351t1:c.8867+76_8867+77insG NP_060360.3:n.8867+76_8867+77insG
NM_152564.4:c.8792+76_8792+77insG , LRG_351t2:c.8792+76_8792+77insG NP_689777.3:n.8792+76_8792+77insG
XM_005250800.2:c.8867+76_8867+77insG XP_005250857.1:n.8867+76_8867+77insG
XM_005250801.3:c.8867+76_8867+77insG XP_005250858.1:n.8867+76_8867+77insG
XM_011516848.1:c.8864+76_8864+77insG XP_011515150.1:n.8864+76_8864+77insG
XM_011516849.1:c.8789+76_8789+77insG XP_011515151.1:n.8789+76_8789+77insG
XM_011516850.1:c.8489+76_8489+77insG XP_011515152.1:n.8489+76_8489+77insG
XM_011516851.1:c.5753+76_5753+77insG XP_011515153.1:n.5753+76_5753+77insG
XM_011516852.1:c.5753+76_5753+77insG XP_011515154.1:n.5753+76_5753+77insG
XM_011516854.1:c.4646+76_4646+77insG XP_011515156.1:n.4646+76_4646+77insG
XM_005250800.3:c.8867+76_8867+77insG XP_005250857.1:n.8867+76_8867+77insG
XM_005250801.5:c.8867+76_8867+77insG XP_005250858.1:n.8867+76_8867+77insG
XM_011516848.2:c.8864+76_8864+77insG XP_011515150.1:n.8864+76_8864+77insG
XM_011516849.2:c.8789+76_8789+77insG XP_011515151.1:n.8789+76_8789+77insG
XM_011516850.2:c.8489+76_8489+77insG XP_011515152.1:n.8489+76_8489+77insG
XM_011516851.2:c.5753+76_5753+77insG XP_011515153.1:n.5753+76_5753+77insG
XM_011516852.2:c.5753+76_5753+77insG XP_011515154.1:n.5753+76_5753+77insG
XM_011516854.2:c.4646+76_4646+77insG XP_011515156.1:n.4646+76_4646+77insG
XM_017013109.1:c.8672+76_8672+77insG XP_016868598.1:n.8672+76_8672+77insG
XM_017013111.1:c.5753+76_5753+77insG XP_016868600.1:n.5753+76_5753+77insG
XM_017013112.1:c.4424+76_4424+77insG XP_016868601.1:n.4424+76_4424+77insG
XM_024447074.1:c.7652+76_7652+77insG XP_024302842.1:n.7652+76_7652+77insG
NM_017890.5:c.8867+76_8867+77insG MANE Plus Clinical NP_060360.3:n.8867+76_8867+77insG
NM_152564.5:c.8792+76_8792+77insG MANE Select NP_689777.3:n.8792+76_8792+77insG