Canonical Allele Identifier: CA1816330548
Gene: ZHX2 HGNC NCBI

Linked Data

dbSNP Id: rs1813421604

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.122960745_122960749del , CM000670.2:g.122960745_122960749del GRCh38
NC_000008.10:g.123972985_123972989del , CM000670.1:g.123972985_123972989del GRCh37
NC_000008.9:g.124042166_124042170del NCBI36
NG_046951.1:g.184397_184401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000314393.6:c.*4+6717_*4+6721del MANE Select ENSP00000314709.4:n.*4+6717_*4+6721del
ENST00000314393.5:c.*4+6717_*4+6721del ENSP00000314709.4:n.*4+6717_*4+6721del
NM_014943.3:c.*4+6717_*4+6721del NP_055758.1:n.*4+6717_*4+6721del
XM_005250836.3:c.*4+6717_*4+6721del XP_005250893.1:n.*4+6717_*4+6721del
XM_005250837.3:c.*4+6717_*4+6721del XP_005250894.1:n.*4+6717_*4+6721del
XM_011516931.1:c.*4+6717_*4+6721del XP_011515233.1:n.*4+6717_*4+6721del
XM_011516932.1:c.*4+6717_*4+6721del XP_011515234.1:n.*4+6717_*4+6721del
NM_001362797.1:c.*4+6717_*4+6721del NP_001349726.1:n.*4+6717_*4+6721del
NM_014943.4:c.*4+6717_*4+6721del NP_055758.1:n.*4+6717_*4+6721del
XM_005250836.5:c.*4+6717_*4+6721del XP_005250893.1:n.*4+6717_*4+6721del
XM_011516932.3:c.*4+6717_*4+6721del XP_011515234.1:n.*4+6717_*4+6721del
NM_014943.5:c.*4+6717_*4+6721del MANE Select NP_055758.1:n.*4+6717_*4+6721del
NM_001362797.2:c.*4+6717_*4+6721del NP_001349726.1:n.*4+6717_*4+6721del