Canonical Allele Identifier: CA128019

Gene: AK1

Linked Data

• ClinVar Variation Id: 18269
• ClinVar RCV Id: RCV000019931
• dbSNP Id: rs387906583
• gnomAD v4: 9-127872757-AC-A
• MyVariant Identifiers: chr9:g.130635037del (hg19) ; chr9:g.127872758del (hg38)
• PubMed: PMID:15315793

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127872759del , CM000671.2:g.127872759del	GRCh38
NC_000009.11:g.130635038del , CM000671.1:g.130635038del	GRCh37
NC_000009.10:g.129674859del	NCBI36
NG_011792.1:g.9986del
NG_011792.2:g.9986del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.639del
ENST00000548587.1:n.418del
ENST00000643029.1:c.*1814del	ENSP00000496586.1:n.*1814del
ENST00000643338.1:c.*1703del	ENSP00000495890.1:n.*1703del
ENST00000644144.2:c.139del MANE Select	ENSP00000494600.1:p.Val47SerfsTer?
ENST00000645007.1:c.*2063del	ENSP00000494773.1:n.*2063del
ENST00000646171.1:c.*172del	ENSP00000495484.1:n.*172del
ENST00000223836.10:c.187del	ENSP00000223836.10:p.Val63SerfsTer?
ENST00000373156.5:c.139del	ENSP00000362249.1:p.Val47SerfsTer?
ENST00000373176.5:c.139del	ENSP00000362271.1:p.Val47SerfsTer?
ENST00000413016.5:c.29+268del
ENST00000550992.1:c.*159del	ENSP00000448741.1:n.*159del
NM_000476.2:c.139del	NP_000467.1:p.Val47SerfsTer?
XM_005251786.2:c.187del	XP_005251843.1:p.Val63SerfsTer?
XM_011518348.1:c.139del	XP_011516650.1:p.Val47SerfsTer?
XM_011518349.1:c.-42del	XP_011516651.1:n.-42del
NM_001318121.1:c.139del	NP_001305050.1:p.Val47SerfsTer?
NM_001318122.1:c.187del	NP_001305051.1:p.Val63SerfsTer?
XM_017014428.1:c.139del	XP_016869917.1:p.Val47SerfsTer?
XM_024447439.1:c.118del	XP_024303207.1:p.Val40SerfsTer?
XM_024447440.1:c.-42del	XP_024303208.1:n.-42del
NM_001318122.2:c.187del	NP_001305051.1:p.Val63SerfsTer?
NM_000476.3:c.139del MANE Select	NP_000467.1:p.Val47SerfsTer?
NR_174625.1:n.3458del
NR_174626.1:n.3338del
NR_174627.1:n.3338del
NR_174628.1:n.2716del
NR_174629.1:n.2661del
NR_174630.1:n.2697del
NR_174631.1:n.2642del
NR_174632.1:n.2731del