Canonical Allele Identifier: CA5253350
Gene: AK1 HGNC NCBI

Linked Data

dbSNP Id: rs764253801

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868455_127868476del , CM000671.2:g.127868455_127868476del GRCh38
NC_000009.11:g.130630734_130630755del , CM000671.1:g.130630734_130630755del GRCh37
NC_000009.10:g.129670555_129670576del NCBI36
NG_011792.1:g.14271_14292del
NG_011792.2:g.14271_14292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.864_885del
ENST00000643029.1:c.*2039_*2060del ENSP00000496586.1:n.*2039_*2060del
ENST00000643338.1:c.*1928_*1949del ENSP00000495890.1:n.*1928_*1949del
ENST00000644144.2:c.364_385del MANE Select ENSP00000494600.1:p.Pro122SerfsTer2
ENST00000645007.1:c.*2288_*2309del ENSP00000494773.1:n.*2288_*2309del
ENST00000646171.1:c.*397_*418del ENSP00000495484.1:n.*397_*418del
ENST00000223836.10:c.412_433del ENSP00000223836.10:p.Pro138SerfsTer2
ENST00000373156.5:c.364_385del ENSP00000362249.1:p.Pro122SerfsTer2
ENST00000373176.5:c.364_385del ENSP00000362271.1:p.Pro122SerfsTer2
ENST00000413016.5:c.186_207del
ENST00000550143.5:c.144_165del
NM_000476.2:c.364_385del NP_000467.1:p.Pro122SerfsTer2
XM_005251786.2:c.412_433del XP_005251843.1:p.Pro138SerfsTer2
XM_011518348.1:c.364_385del XP_011516650.1:p.Pro122SerfsTer2
XM_011518349.1:c.184_205del XP_011516651.1:p.Pro62SerfsTer2
NM_001318121.1:c.364_385del NP_001305050.1:p.Pro122SerfsTer2
NM_001318122.1:c.412_433del NP_001305051.1:p.Pro138SerfsTer2
XM_017014428.1:c.364_385del XP_016869917.1:p.Pro122SerfsTer2
XM_024447439.1:c.343_364del XP_024303207.1:p.Pro115SerfsTer2
XM_024447440.1:c.184_205del XP_024303208.1:p.Pro62SerfsTer2
NM_001318122.2:c.412_433del NP_001305051.1:p.Pro138SerfsTer2
NM_000476.3:c.364_385del MANE Select NP_000467.1:p.Pro122SerfsTer2
NR_174625.1:n.3683_3704del
NR_174626.1:n.3526_3547del
NR_174627.1:n.3563_3584del
NR_174628.1:n.2941_2962del
NR_174629.1:n.2886_2907del
NR_174630.1:n.2922_2943del
NR_174631.1:n.2867_2888del
NR_174632.1:n.2956_2977del