Canonical Allele Identifier: CA1880009350

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868413_127868416delinsTGTC , CM000671.2:g.127868413_127868416delinsTGTC	GRCh38
NC_000009.11:g.130630692_130630695delinsTGTC , CM000671.1:g.130630692_130630695delinsTGTC	GRCh37
NC_000009.10:g.129670513_129670516delinsTGTC	NCBI36
NG_011792.1:g.14328_14331delinsGACA
NG_011792.2:g.14328_14331delinsGACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.921_924delinsGACA
ENST00000643029.1:c.*2096_*2099delinsGACA	ENSP00000496586.1:n.*2096_*2099delinsGACA
ENST00000643338.1:c.*1985_*1988delinsGACA	ENSP00000495890.1:n.*1985_*1988delinsGACA
ENST00000644144.2:c.421_424delinsGACA MANE Select	ENSP00000494600.1:p.Asp141=
ENST00000645007.1:c.*2345_*2348delinsGACA	ENSP00000494773.1:n.*2345_*2348delinsGACA
ENST00000646171.1:c.*454_*457delinsGACA	ENSP00000495484.1:n.*454_*457delinsGACA
ENST00000223836.10:c.469_472delinsGACA	ENSP00000223836.10:p.Asp157=
ENST00000373156.5:c.421_424delinsGACA	ENSP00000362249.1:p.Asp141=
ENST00000373176.5:c.421_424delinsGACA	ENSP00000362271.1:p.Asp141=
ENST00000413016.5:c.243_246delinsGACA
ENST00000550143.5:c.201_204delinsGACA	ENSP00000449130.1:n.201_204delinsGACA
NM_000476.2:c.421_424delinsGACA	NP_000467.1:p.Asp141=
XM_005251786.2:c.469_472delinsGACA	XP_005251843.1:p.Asp157=
XM_011518348.1:c.421_424delinsGACA	XP_011516650.1:p.Asp141=
XM_011518349.1:c.241_244delinsGACA	XP_011516651.1:p.Asp81=
NM_001318121.1:c.421_424delinsGACA	NP_001305050.1:p.Asp141=
NM_001318122.1:c.469_472delinsGACA	NP_001305051.1:p.Asp157=
XM_017014428.1:c.421_424delinsGACA	XP_016869917.1:p.Asp141=
XM_024447439.1:c.400_403delinsGACA	XP_024303207.1:p.Asp134=
XM_024447440.1:c.241_244delinsGACA	XP_024303208.1:p.Asp81=
NM_001318122.2:c.469_472delinsGACA	NP_001305051.1:p.Asp157=
NM_000476.3:c.421_424delinsGACA MANE Select	NP_000467.1:p.Asp141=
NR_174625.1:n.3740_3743delinsGACA
NR_174626.1:n.3583_3586delinsGACA
NR_174627.1:n.3620_3623delinsGACA
NR_174628.1:n.2998_3001delinsGACA
NR_174629.1:n.2943_2946delinsGACA
NR_174630.1:n.2979_2982delinsGACA
NR_174631.1:n.2924_2927delinsGACA
NR_174632.1:n.3013_3016delinsGACA