Canonical Allele Identifier: CA2691812683

Gene: AK1

Linked Data

• gnomAD v4: 9-127868404-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868408_127868410del , CM000671.2:g.127868408_127868410del	GRCh38
NC_000009.11:g.130630687_130630689del , CM000671.1:g.130630687_130630689del	GRCh37
NC_000009.10:g.129670508_129670510del	NCBI36
NG_011792.1:g.14337_14339del
NG_011792.2:g.14337_14339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.930_932del
ENST00000643029.1:c.*2105_*2107del	ENSP00000496586.1:n.*2105_*2107del
ENST00000643338.1:c.*1994_*1996del	ENSP00000495890.1:n.*1994_*1996del
ENST00000644144.2:c.430_432del MANE Select	ENSP00000494600.1:p.Glu144del
ENST00000645007.1:c.*2354_*2356del	ENSP00000494773.1:n.*2354_*2356del
ENST00000646171.1:c.*463_*465del	ENSP00000495484.1:n.*463_*465del
ENST00000223836.10:c.478_480del	ENSP00000223836.10:p.Glu160del
ENST00000373156.5:c.430_432del	ENSP00000362249.1:p.Glu144del
ENST00000373176.5:c.430_432del	ENSP00000362271.1:p.Glu144del
ENST00000413016.5:c.252_254del
ENST00000550143.5:c.210_212del	ENSP00000449130.1:n.210_212del
NM_000476.2:c.430_432del	NP_000467.1:p.Glu144del
XM_005251786.2:c.478_480del	XP_005251843.1:p.Glu160del
XM_011518348.1:c.430_432del	XP_011516650.1:p.Glu144del
XM_011518349.1:c.250_252del	XP_011516651.1:p.Glu84del
NM_001318121.1:c.430_432del	NP_001305050.1:p.Glu144del
NM_001318122.1:c.478_480del	NP_001305051.1:p.Glu160del
XM_017014428.1:c.430_432del	XP_016869917.1:p.Glu144del
XM_024447439.1:c.409_411del	XP_024303207.1:p.Glu137del
XM_024447440.1:c.250_252del	XP_024303208.1:p.Glu84del
NM_001318122.2:c.478_480del	NP_001305051.1:p.Glu160del
NM_000476.3:c.430_432del MANE Select	NP_000467.1:p.Glu144del
NR_174625.1:n.3749_3751del
NR_174626.1:n.3592_3594del
NR_174627.1:n.3629_3631del
NR_174628.1:n.3007_3009del
NR_174629.1:n.2952_2954del
NR_174630.1:n.2988_2990del
NR_174631.1:n.2933_2935del
NR_174632.1:n.3022_3024del