Canonical Allele Identifier: CA1880009344

Gene: AK1

Linked Data

• dbSNP Id: rs1829299733
• gnomAD v4: 9-127868393-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868398del , CM000671.2:g.127868398del	GRCh38
NC_000009.11:g.130630677del , CM000671.1:g.130630677del	GRCh37
NC_000009.10:g.129670498del	NCBI36
NG_011792.1:g.14350del
NG_011792.2:g.14350del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.943del
ENST00000643029.1:c.*2118del	ENSP00000496586.1:n.*2118del
ENST00000643338.1:c.*2007del	ENSP00000495890.1:n.*2007del
ENST00000644144.2:c.443del MANE Select	ENSP00000494600.1:p.Lys148SerfsTer?
ENST00000645007.1:c.*2367del	ENSP00000494773.1:n.*2367del
ENST00000646171.1:c.*476del	ENSP00000495484.1:n.*476del
ENST00000223836.10:c.491del	ENSP00000223836.10:p.Lys164SerfsTer?
ENST00000373156.5:c.443del	ENSP00000362249.1:p.Lys148SerfsTer?
ENST00000373176.5:c.443del	ENSP00000362271.1:p.Lys148SerfsTer?
ENST00000413016.5:c.265del
ENST00000550143.5:c.223del	ENSP00000449130.1:n.223del
NM_000476.2:c.443del	NP_000467.1:p.Lys148SerfsTer?
XM_005251786.2:c.491del	XP_005251843.1:p.Lys164SerfsTer?
XM_011518348.1:c.443del	XP_011516650.1:p.Lys148SerfsTer?
XM_011518349.1:c.263del	XP_011516651.1:p.Lys88SerfsTer?
NM_001318121.1:c.443del	NP_001305050.1:p.Lys148SerfsTer?
NM_001318122.1:c.491del	NP_001305051.1:p.Lys164SerfsTer?
XM_017014428.1:c.443del	XP_016869917.1:p.Lys148SerfsTer?
XM_024447439.1:c.422del	XP_024303207.1:p.Lys141SerfsTer?
XM_024447440.1:c.263del	XP_024303208.1:p.Lys88SerfsTer?
NM_001318122.2:c.491del	NP_001305051.1:p.Lys164SerfsTer?
NM_000476.3:c.443del MANE Select	NP_000467.1:p.Lys148SerfsTer?
NR_174625.1:n.3762del
NR_174626.1:n.3605del
NR_174627.1:n.3642del
NR_174628.1:n.3020del
NR_174629.1:n.2965del
NR_174630.1:n.3001del
NR_174631.1:n.2946del
NR_174632.1:n.3035del