Canonical Allele Identifier: CA2850446218
Gene: VPS13B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.99556450del , CM000670.2:g.99556450del GRCh38
NC_000008.10:g.100568678del , CM000670.1:g.100568678del GRCh37
NC_000008.9:g.100637854del NCBI36
NG_007098.2:g.548185del , LRG_351:g.548185del

Transcript Alleles

HGVS Amino-acid Change
NM_017890.4:c.4821del , LRG_351t1:c.4821del
NM_017890.5:c.4821del
NM_152564.4:c.4746del , LRG_351t2:c.4746del
NM_152564.5:c.4746del
ENST00000357162.6:c.4746del
ENST00000357162.7:c.4746del
ENST00000358544.6:c.4821del
ENST00000358544.7:c.4821del
ENST00000496144.5:c.*604del
ENST00000521559.1:c.113-19208del
ENST00000682153.1:c.4821del
ENST00000682358.1:n.4891del
ENST00000683334.1:c.*503del
XM_005250800.2:c.4821del
XM_005250800.3:c.4821del
XM_005250801.3:c.4821del
XM_005250801.5:c.4821del
XM_006716510.2:c.4821del
XM_006716510.3:c.4821del
XM_011516848.1:c.4818del
XM_011516848.2:c.4818del
XM_011516849.1:c.4743del
XM_011516849.2:c.4743del
XM_011516850.1:c.4443del
XM_011516850.2:c.4443del
XM_011516851.1:c.1707del
XM_011516851.2:c.1707del
XM_011516852.1:c.1707del
XM_011516852.2:c.1707del
XM_011516853.1:c.4821del
XM_011516853.2:c.4821del
XM_011516854.1:c.600del
XM_011516854.2:c.600del
XM_017013109.1:c.4626del
XM_017013111.1:c.1707del
XM_017013112.1:c.378del
XM_024447074.1:c.3606del
XR_001745482.2:n.4782del
XR_928301.1:n.4924del
XR_928302.1:n.4924del
XR_928302.2:n.4924del
XR_928303.1:n.4924del
XR_928304.1:n.4991del