Canonical Allele Identifier: CA5253350

Gene: AK1

Linked Data

• dbSNP Id: rs764253801
• ExAC: 9:130630730 AGCCGCTGGGTCATGGTCTCAGG / A
• gnomAD v2: 9-130630730-AGCCGCTGGGTCATGGTCTCAGG-A
• gnomAD v4: 9-127868451-AGCCGCTGGGTCATGGTCTCAGG-A
• MyVariant Identifiers: chr9:g.130630731_130630752del (hg19) ; chr9:g.127868452_127868473del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868455_127868476del , CM000671.2:g.127868455_127868476del	GRCh38
NC_000009.11:g.130630734_130630755del , CM000671.1:g.130630734_130630755del	GRCh37
NC_000009.10:g.129670555_129670576del	NCBI36
NG_011792.1:g.14271_14292del
NG_011792.2:g.14271_14292del

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.864_885del
ENST00000643029.1:c.*2039_*2060del	ENSP00000496586.1:n.*2039_*2060del
ENST00000643338.1:c.*1928_*1949del	ENSP00000495890.1:n.*1928_*1949del
ENST00000644144.2:c.364_385del MANE Select	ENSP00000494600.1:p.Pro122SerfsTer2
ENST00000645007.1:c.*2288_*2309del	ENSP00000494773.1:n.*2288_*2309del
ENST00000646171.1:c.*397_*418del	ENSP00000495484.1:n.*397_*418del
ENST00000223836.10:c.412_433del	ENSP00000223836.10:p.Pro138SerfsTer2
ENST00000373156.5:c.364_385del	ENSP00000362249.1:p.Pro122SerfsTer2
ENST00000373176.5:c.364_385del	ENSP00000362271.1:p.Pro122SerfsTer2
ENST00000413016.5:c.186_207del
ENST00000550143.5:c.144_165del
NM_000476.2:c.364_385del	NP_000467.1:p.Pro122SerfsTer2
XM_005251786.2:c.412_433del	XP_005251843.1:p.Pro138SerfsTer2
XM_011518348.1:c.364_385del	XP_011516650.1:p.Pro122SerfsTer2
XM_011518349.1:c.184_205del	XP_011516651.1:p.Pro62SerfsTer2
NM_001318121.1:c.364_385del	NP_001305050.1:p.Pro122SerfsTer2
NM_001318122.1:c.412_433del	NP_001305051.1:p.Pro138SerfsTer2
XM_017014428.1:c.364_385del	XP_016869917.1:p.Pro122SerfsTer2
XM_024447439.1:c.343_364del	XP_024303207.1:p.Pro115SerfsTer2
XM_024447440.1:c.184_205del	XP_024303208.1:p.Pro62SerfsTer2
NM_001318122.2:c.412_433del	NP_001305051.1:p.Pro138SerfsTer2
NM_000476.3:c.364_385del MANE Select	NP_000467.1:p.Pro122SerfsTer2
NR_174625.1:n.3683_3704del
NR_174626.1:n.3526_3547del
NR_174627.1:n.3563_3584del
NR_174628.1:n.2941_2962del
NR_174629.1:n.2886_2907del
NR_174630.1:n.2922_2943del
NR_174631.1:n.2867_2888del
NR_174632.1:n.2956_2977del