Canonical Allele Identifier: CA1880009379

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868457_127868458delinsTG , CM000671.2:g.127868457_127868458delinsTG	GRCh38
NC_000009.11:g.130630736_130630737delinsTG , CM000671.1:g.130630736_130630737delinsTG	GRCh37
NC_000009.10:g.129670557_129670558delinsTG	NCBI36
NG_011792.1:g.14286_14287delinsCA
NG_011792.2:g.14286_14287delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.879_880delinsCA
ENST00000643029.1:c.*2054_*2055delinsCA	ENSP00000496586.1:n.*2054_*2055delinsCA
ENST00000643338.1:c.*1943_*1944delinsCA	ENSP00000495890.1:n.*1943_*1944delinsCA
ENST00000644144.2:c.379_380delinsCA MANE Select	ENSP00000494600.1:p.Gln127=
ENST00000645007.1:c.*2303_*2304delinsCA	ENSP00000494773.1:n.*2303_*2304delinsCA
ENST00000646171.1:c.*412_*413delinsCA	ENSP00000495484.1:n.*412_*413delinsCA
ENST00000223836.10:c.427_428delinsCA	ENSP00000223836.10:p.Gln143=
ENST00000373156.5:c.379_380delinsCA	ENSP00000362249.1:p.Gln127=
ENST00000373176.5:c.379_380delinsCA	ENSP00000362271.1:p.Gln127=
ENST00000413016.5:c.201_202delinsCA
ENST00000550143.5:c.159_160delinsCA	ENSP00000449130.1:n.159_160delinsCA
NM_000476.2:c.379_380delinsCA	NP_000467.1:p.Gln127=
XM_005251786.2:c.427_428delinsCA	XP_005251843.1:p.Gln143=
XM_011518348.1:c.379_380delinsCA	XP_011516650.1:p.Gln127=
XM_011518349.1:c.199_200delinsCA	XP_011516651.1:p.Gln67=
NM_001318121.1:c.379_380delinsCA	NP_001305050.1:p.Gln127=
NM_001318122.1:c.427_428delinsCA	NP_001305051.1:p.Gln143=
XM_017014428.1:c.379_380delinsCA	XP_016869917.1:p.Gln127=
XM_024447439.1:c.358_359delinsCA	XP_024303207.1:p.Gln120=
XM_024447440.1:c.199_200delinsCA	XP_024303208.1:p.Gln67=
NM_001318122.2:c.427_428delinsCA	NP_001305051.1:p.Gln143=
NM_000476.3:c.379_380delinsCA MANE Select	NP_000467.1:p.Gln127=
NR_174625.1:n.3698_3699delinsCA
NR_174626.1:n.3541_3542delinsCA
NR_174627.1:n.3578_3579delinsCA
NR_174628.1:n.2956_2957delinsCA
NR_174629.1:n.2901_2902delinsCA
NR_174630.1:n.2937_2938delinsCA
NR_174631.1:n.2882_2883delinsCA
NR_174632.1:n.2971_2972delinsCA