Canonical Allele Identifier: CA2838814295

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868456dup , CM000671.2:g.127868456dup	GRCh38
NC_000009.11:g.130630735dup , CM000671.1:g.130630735dup	GRCh37
NC_000009.10:g.129670556dup	NCBI36
NG_011792.1:g.14288dup
NG_011792.2:g.14288dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.881dup
ENST00000643029.1:c.*2056dup	ENSP00000496586.1:n.*2056dup
ENST00000643338.1:c.*1945dup	ENSP00000495890.1:n.*1945dup
ENST00000644144.2:c.381dup MANE Select	ENSP00000494600.1:p.Arg128AlafsTer16
ENST00000645007.1:c.*2305dup	ENSP00000494773.1:n.*2305dup
ENST00000646171.1:c.*414dup	ENSP00000495484.1:n.*414dup
ENST00000223836.10:c.429dup	ENSP00000223836.10:p.Arg144AlafsTer16
ENST00000373156.5:c.381dup	ENSP00000362249.1:p.Arg128AlafsTer16
ENST00000373176.5:c.381dup	ENSP00000362271.1:p.Arg128AlafsTer16
ENST00000413016.5:c.203dup
ENST00000550143.5:c.161dup	ENSP00000449130.1:n.161dup
NM_000476.2:c.381dup	NP_000467.1:p.Arg128AlafsTer16
XM_005251786.2:c.429dup	XP_005251843.1:p.Arg144AlafsTer16
XM_011518348.1:c.381dup	XP_011516650.1:p.Arg128AlafsTer16
XM_011518349.1:c.201dup	XP_011516651.1:p.Arg68AlafsTer16
NM_001318121.1:c.381dup	NP_001305050.1:p.Arg128AlafsTer16
NM_001318122.1:c.429dup	NP_001305051.1:p.Arg144AlafsTer16
XM_017014428.1:c.381dup	XP_016869917.1:p.Arg128AlafsTer16
XM_024447439.1:c.360dup	XP_024303207.1:p.Arg121AlafsTer16
XM_024447440.1:c.201dup	XP_024303208.1:p.Arg68AlafsTer16
NM_001318122.2:c.429dup	NP_001305051.1:p.Arg144AlafsTer16
NM_000476.3:c.381dup MANE Select	NP_000467.1:p.Arg128AlafsTer16
NR_174625.1:n.3700dup
NR_174626.1:n.3543dup
NR_174627.1:n.3580dup
NR_174628.1:n.2958dup
NR_174629.1:n.2903dup
NR_174630.1:n.2939dup
NR_174631.1:n.2884dup
NR_174632.1:n.2973dup