Canonical Allele Identifier: CA4517395
Gene: AGK HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.141611230dup , CM000669.2:g.141611230dup GRCh38
NC_000007.13:g.141311030dup , CM000669.1:g.141311030dup GRCh37
NC_000007.12:g.140957499dup NCBI36
NG_032079.1:g.64953dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000647568.1:c.333dup ENSP00000497039.1:p.Leu112ThrfsTer30
ENST00000647898.1:n.223dup
ENST00000648068.1:c.333dup ENSP00000498112.1:p.Leu112ThrfsTer30
ENST00000648395.1:c.57dup ENSP00000497666.1:p.Leu20ThrfsTer30
ENST00000648489.1:n.364dup
ENST00000648690.1:c.57dup ENSP00000497945.1:p.Leu20ThrfsTer30
ENST00000649014.1:c.333dup ENSP00000497984.1:p.Leu112ThrfsTer30
ENST00000649286.2:c.333dup MANE Select ENSP00000497280.1:p.Leu112ThrfsTer30
ENST00000649365.1:c.*341dup ENSP00000496835.1:n.*341dup
ENST00000649538.1:n.361dup
ENST00000649790.1:c.57dup ENSP00000498193.1:p.Leu20ThrfsTer30
ENST00000649914.1:c.321dup ENSP00000497848.1:p.Leu108ThrfsTer30
ENST00000650006.1:c.333dup ENSP00000497457.1:p.Leu112ThrfsTer30
ENST00000650365.1:c.*218dup ENSP00000497358.1:n.*218dup
ENST00000650547.1:c.333dup ENSP00000496789.1:p.Leu112ThrfsTer30
ENST00000355413.8:c.333dup ENSP00000347581.4:p.Leu112ThrfsTer30
ENST00000465241.5:n.344dup
ENST00000473247.5:c.249dup ENSP00000420776.1:p.Leu84ThrfsTer30
ENST00000473884.5:c.*152dup ENSP00000420540.1:n.*152dup
ENST00000494688.1:c.324dup ENSP00000418101.1:p.Leu109ThrfsTer30
ENST00000496273.1:n.96dup
ENST00000629555.2:c.324dup ENSP00000487274.1:p.Leu109ThrfsTer30
NM_018238.3:c.333dup NP_060708.1:p.Leu112ThrfsTer30
XM_005250023.3:c.333dup XP_005250080.1:p.Leu112ThrfsTer30
XM_011516397.1:c.333dup XP_011514699.1:p.Leu112ThrfsTer30
NM_001364948.1:c.333dup NP_001351877.1:p.Leu112ThrfsTer30
NM_018238.4:c.333dup MANE Select NP_060708.1:p.Leu112ThrfsTer30
XM_011516397.3:c.333dup XP_011514699.1:p.Leu112ThrfsTer30
XM_024446835.1:c.333dup XP_024302603.1:p.Leu112ThrfsTer30
NM_001364948.2:c.333dup NP_001351877.1:p.Leu112ThrfsTer30
NM_001364948.3:c.333dup NP_001351877.1:p.Leu112ThrfsTer30