Canonical Allele Identifier: CA1880009332
Gene: AK1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868359_127868360delinsCA , CM000671.2:g.127868359_127868360delinsCA GRCh38
NC_000009.11:g.130630638_130630639delinsCA , CM000671.1:g.130630638_130630639delinsCA GRCh37
NC_000009.10:g.129670459_129670460delinsCA NCBI36
NG_011792.2:g.14384_14385delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000476274.7:n.977_978delinsTG
ENST00000643029.1:c.*2152_*2153delinsTG ENSP00000496586.1:n.*2152_*2153delinsTG
ENST00000643338.1:c.*2041_*2042delinsTG ENSP00000495890.1:n.*2041_*2042delinsTG
ENST00000644144.2:c.477_478delinsTG MANE Select ENSP00000494600.1:p.Pro159=
ENST00000645007.1:c.*2401_*2402delinsTG ENSP00000494773.1:n.*2401_*2402delinsTG
ENST00000646171.1:c.*510_*511delinsTG ENSP00000495484.1:n.*510_*511delinsTG
ENST00000223836.10:c.525_526delinsTG ENSP00000223836.10:p.Pro175=
ENST00000373156.5:c.477_478delinsTG ENSP00000362249.1:p.Pro159=
ENST00000373176.5:c.477_478delinsTG ENSP00000362271.1:p.Pro159=
ENST00000413016.5:c.299_300delinsTG
ENST00000550143.5:c.257_258delinsTG ENSP00000449130.1:n.257_258delinsTG
XM_005251786.2:c.525_526delinsTG XP_005251843.1:p.Pro175=
XM_011518348.1:c.477_478delinsTG XP_011516650.1:p.Pro159=
XM_011518349.1:c.297_298delinsTG XP_011516651.1:p.Pro99=
XM_017014428.1:c.477_478delinsTG XP_016869917.1:p.Pro159=
XM_024447439.1:c.456_457delinsTG XP_024303207.1:p.Pro152=
XM_024447440.1:c.297_298delinsTG XP_024303208.1:p.Pro99=
NM_001318122.2:c.525_526delinsTG NP_001305051.1:p.Pro175=
NM_000476.3:c.477_478delinsTG MANE Select NP_000467.1:p.Pro159=
NR_174625.1:n.3796_3797delinsTG
NR_174626.1:n.3639_3640delinsTG
NR_174627.1:n.3676_3677delinsTG
NR_174628.1:n.3054_3055delinsTG
NR_174629.1:n.2999_3000delinsTG
NR_174630.1:n.3035_3036delinsTG
NR_174631.1:n.2980_2981delinsTG
NR_174632.1:n.3069_3070delinsTG