Canonical Allele Identifier: CA645610772
Gene: GK HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30724137del , CM000685.2:g.30724137del GRCh38
NC_000023.10:g.30742254del , CM000685.1:g.30742254del GRCh37
NC_000023.9:g.30652175del NCBI36
NG_008178.1:g.75779del

Transcript Alleles

HGVS Amino-acid Change
ENST00000692461.1:c.1604del ENSP00000509378.1:p.Val535GlyfsTer2
ENST00000427190.6:c.1538del MANE Select ENSP00000401720.2:p.Val513GlyfsTer2
ENST00000479048.6:c.*1241del ENSP00000420676.1:n.*1241del
ENST00000378943.7:c.1520del ENSP00000368226.3:p.Val507GlyfsTer2
ENST00000378945.7:c.1520del ENSP00000368228.3:p.Val507GlyfsTer2
ENST00000378946.7:c.1538del ENSP00000368229.3:p.Val513GlyfsTer2
ENST00000427190.5:c.1538del ENSP00000401720.2:p.Val513GlyfsTer2
ENST00000481024.5:c.*1394del ENSP00000418873.1:n.*1394del
NM_000167.5:c.1520del NP_000158.1:p.Val507GlyfsTer2
NM_001128127.2:c.1520del NP_001121599.1:p.Val507GlyfsTer2
NM_001205019.1:c.1538del NP_001191948.1:p.Val513GlyfsTer2
NM_203391.3:c.1538del NP_976325.1:p.Val513GlyfsTer2
XM_005274488.3:c.905del XP_005274545.1:p.Val302GlyfsTer2
XM_006724483.2:c.1604del XP_006724546.1:p.Val535GlyfsTer2
XM_006724484.2:c.1604del XP_006724547.1:p.Val535GlyfsTer2
XM_006724485.2:c.923del XP_006724548.1:p.Val308GlyfsTer2
XM_006724486.2:c.923del XP_006724549.1:p.Val308GlyfsTer2
XM_011545491.1:c.1622del XP_011543793.1:p.Val541GlyfsTer2
XM_011545492.1:c.1622del XP_011543794.1:p.Val541GlyfsTer2
XM_011545493.1:c.923del XP_011543795.1:p.Val308GlyfsTer2
XM_011545494.1:c.923del XP_011543796.1:p.Val308GlyfsTer2
XM_005274488.4:c.905del XP_005274545.1:p.Val302GlyfsTer2
XM_006724486.3:c.923del XP_006724549.1:p.Val308GlyfsTer2
XM_011545491.2:c.1622del XP_011543793.1:p.Val541GlyfsTer2
XM_011545493.2:c.923del XP_011543795.1:p.Val308GlyfsTer2
XM_011545494.2:c.923del XP_011543796.1:p.Val308GlyfsTer2
XM_017029409.1:c.923del XP_016884898.1:p.Val308GlyfsTer2
XM_017029410.1:c.923del XP_016884899.1:p.Val308GlyfsTer2
XM_017029411.1:c.905del XP_016884900.1:p.Val302GlyfsTer2
XM_017029412.2:c.905del XP_016884901.1:p.Val302GlyfsTer2
NM_000167.6:c.1520del NP_000158.1:p.Val507GlyfsTer2
NM_001128127.3:c.1520del NP_001121599.1:p.Val507GlyfsTer2
NM_001205019.2:c.1538del MANE Select NP_001191948.1:p.Val513GlyfsTer2
NM_203391.4:c.1538del NP_976325.1:p.Val513GlyfsTer2
NM_001399987.1:c.1604del NP_001386916.1:p.Val535GlyfsTer2
NR_174369.1:n.1818del
NR_174370.1:n.1546del
NR_174371.1:n.1472del
NR_174372.1:n.1454del
NR_174373.1:n.1528del
NR_174374.1:n.1472del
NR_174375.1:n.1454del