Canonical Allele Identifier: CA2781476153
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99819659_99819660insACA , CM000670.2:g.99819659_99819660insACA GRCh38
NC_000008.10:g.100831887_100831888insACA , CM000670.1:g.100831887_100831888insACA GRCh37
NC_000008.9:g.100901063_100901064insACA NCBI36
NG_007098.2:g.811394_811395insACA , LRG_351:g.811394_811395insACA

Transcript Alleles

HGVS Amino-acid Change
ENST00000682153.1:c.8867+77_8867+78insACA ENSP00000507923.1:n.8867+77_8867+78insACA
ENST00000682358.1:n.8937+77_8937+78insACA
ENST00000683334.1:c.*4549+77_*4549+78insACA ENSP00000507369.1:n.*4549+77_*4549+78insACA
ENST00000357162.7:c.8792+77_8792+78insACA MANE Select ENSP00000349685.2:n.8792+77_8792+78insACA
ENST00000358544.7:c.8867+77_8867+78insACA MANE Plus Clinical ENSP00000351346.2:n.8867+77_8867+78insACA
ENST00000357162.6:c.8792+77_8792+78insACA ENSP00000349685.2:n.8792+77_8792+78insACA
ENST00000358544.6:c.8867+77_8867+78insACA ENSP00000351346.2:n.8867+77_8867+78insACA
NM_017890.4:c.8867+77_8867+78insACA , LRG_351t1:c.8867+77_8867+78insACA NP_060360.3:n.8867+77_8867+78insACA
NM_152564.4:c.8792+77_8792+78insACA , LRG_351t2:c.8792+77_8792+78insACA NP_689777.3:n.8792+77_8792+78insACA
XM_005250800.2:c.8867+77_8867+78insACA XP_005250857.1:n.8867+77_8867+78insACA
XM_005250801.3:c.8867+77_8867+78insACA XP_005250858.1:n.8867+77_8867+78insACA
XM_011516848.1:c.8864+77_8864+78insACA XP_011515150.1:n.8864+77_8864+78insACA
XM_011516849.1:c.8789+77_8789+78insACA XP_011515151.1:n.8789+77_8789+78insACA
XM_011516850.1:c.8489+77_8489+78insACA XP_011515152.1:n.8489+77_8489+78insACA
XM_011516851.1:c.5753+77_5753+78insACA XP_011515153.1:n.5753+77_5753+78insACA
XM_011516852.1:c.5753+77_5753+78insACA XP_011515154.1:n.5753+77_5753+78insACA
XM_011516854.1:c.4646+77_4646+78insACA XP_011515156.1:n.4646+77_4646+78insACA
XM_005250800.3:c.8867+77_8867+78insACA XP_005250857.1:n.8867+77_8867+78insACA
XM_005250801.5:c.8867+77_8867+78insACA XP_005250858.1:n.8867+77_8867+78insACA
XM_011516848.2:c.8864+77_8864+78insACA XP_011515150.1:n.8864+77_8864+78insACA
XM_011516849.2:c.8789+77_8789+78insACA XP_011515151.1:n.8789+77_8789+78insACA
XM_011516850.2:c.8489+77_8489+78insACA XP_011515152.1:n.8489+77_8489+78insACA
XM_011516851.2:c.5753+77_5753+78insACA XP_011515153.1:n.5753+77_5753+78insACA
XM_011516852.2:c.5753+77_5753+78insACA XP_011515154.1:n.5753+77_5753+78insACA
XM_011516854.2:c.4646+77_4646+78insACA XP_011515156.1:n.4646+77_4646+78insACA
XM_017013109.1:c.8672+77_8672+78insACA XP_016868598.1:n.8672+77_8672+78insACA
XM_017013111.1:c.5753+77_5753+78insACA XP_016868600.1:n.5753+77_5753+78insACA
XM_017013112.1:c.4424+77_4424+78insACA XP_016868601.1:n.4424+77_4424+78insACA
XM_024447074.1:c.7652+77_7652+78insACA XP_024302842.1:n.7652+77_7652+78insACA
NM_017890.5:c.8867+77_8867+78insACA MANE Plus Clinical NP_060360.3:n.8867+77_8867+78insACA
NM_152564.5:c.8792+77_8792+78insACA MANE Select NP_689777.3:n.8792+77_8792+78insACA