Canonical Allele Identifier: CA2838814299

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868455del , CM000671.2:g.127868455del	GRCh38
NC_000009.11:g.130630734del , CM000671.1:g.130630734del	GRCh37
NC_000009.10:g.129670555del	NCBI36
NG_011792.1:g.14289del
NG_011792.2:g.14289del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.882del
ENST00000643029.1:c.*2057del	ENSP00000496586.1:n.*2057del
ENST00000643338.1:c.*1946del	ENSP00000495890.1:n.*1946del
ENST00000644144.2:c.382del MANE Select	ENSP00000494600.1:p.Arg128GlyfsTer3
ENST00000645007.1:c.*2306del	ENSP00000494773.1:n.*2306del
ENST00000646171.1:c.*415del	ENSP00000495484.1:n.*415del
ENST00000223836.10:c.430del	ENSP00000223836.10:p.Arg144GlyfsTer3
ENST00000373156.5:c.382del	ENSP00000362249.1:p.Arg128GlyfsTer3
ENST00000373176.5:c.382del	ENSP00000362271.1:p.Arg128GlyfsTer3
ENST00000413016.5:c.204del
ENST00000550143.5:c.162del	ENSP00000449130.1:n.162del
NM_000476.2:c.382del	NP_000467.1:p.Arg128GlyfsTer3
XM_005251786.2:c.430del	XP_005251843.1:p.Arg144GlyfsTer3
XM_011518348.1:c.382del	XP_011516650.1:p.Arg128GlyfsTer3
XM_011518349.1:c.202del	XP_011516651.1:p.Arg68GlyfsTer3
NM_001318121.1:c.382del	NP_001305050.1:p.Arg128GlyfsTer3
NM_001318122.1:c.430del	NP_001305051.1:p.Arg144GlyfsTer3
XM_017014428.1:c.382del	XP_016869917.1:p.Arg128GlyfsTer3
XM_024447439.1:c.361del	XP_024303207.1:p.Arg121GlyfsTer3
XM_024447440.1:c.202del	XP_024303208.1:p.Arg68GlyfsTer3
NM_001318122.2:c.430del	NP_001305051.1:p.Arg144GlyfsTer3
NM_000476.3:c.382del MANE Select	NP_000467.1:p.Arg128GlyfsTer3
NR_174625.1:n.3701del
NR_174626.1:n.3544del
NR_174627.1:n.3581del
NR_174628.1:n.2959del
NR_174629.1:n.2904del
NR_174630.1:n.2940del
NR_174631.1:n.2885del
NR_174632.1:n.2974del