Canonical Allele Identifier: CA5253332

Gene: AK1

Linked Data

• dbSNP Id: rs776386826
• ExAC: 9:130630623 CAT / C
• gnomAD v2: 9-130630623-CAT-C
• gnomAD v4: 9-127868344-CAT-C
• MyVariant Identifiers: chr9:g.130630624_130630625del (hg19) ; chr9:g.127868345_127868346del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868346_127868347del , CM000671.2:g.127868346_127868347del	GRCh38
NC_000009.11:g.130630625_130630626del , CM000671.1:g.130630625_130630626del	GRCh37
NC_000009.10:g.129670446_129670447del	NCBI36
NG_011792.1:g.14398_14399del
NG_011792.2:g.14398_14399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.991_992del
ENST00000643029.1:c.*2166_*2167del	ENSP00000496586.1:n.*2166_*2167del
ENST00000643338.1:c.*2055_*2056del	ENSP00000495890.1:n.*2055_*2056del
ENST00000644144.2:c.491_492del MANE Select	ENSP00000494600.1:p.Tyr164Ter
ENST00000645007.1:c.*2415_*2416del	ENSP00000494773.1:n.*2415_*2416del
ENST00000646171.1:c.*524_*525del	ENSP00000495484.1:n.*524_*525del
ENST00000223836.10:c.539_540del	ENSP00000223836.10:p.Tyr180Ter
ENST00000373156.5:c.491_492del	ENSP00000362249.1:p.Tyr164Ter
ENST00000373176.5:c.491_492del	ENSP00000362271.1:p.Tyr164Ter
ENST00000413016.5:c.313_314del
ENST00000550143.5:c.271_272del	ENSP00000449130.1:n.271_272del
NM_000476.2:c.491_492del	NP_000467.1:p.Tyr164Ter
XM_005251786.2:c.539_540del	XP_005251843.1:p.Tyr180Ter
XM_011518348.1:c.491_492del	XP_011516650.1:p.Tyr164Ter
XM_011518349.1:c.311_312del	XP_011516651.1:p.Tyr104Ter
NM_001318121.1:c.491_492del	NP_001305050.1:p.Tyr164Ter
NM_001318122.1:c.539_540del	NP_001305051.1:p.Tyr180Ter
XM_017014428.1:c.491_492del	XP_016869917.1:p.Tyr164Ter
XM_024447439.1:c.470_471del	XP_024303207.1:p.Tyr157Ter
XM_024447440.1:c.311_312del	XP_024303208.1:p.Tyr104Ter
NM_001318122.2:c.539_540del	NP_001305051.1:p.Tyr180Ter
NM_000476.3:c.491_492del MANE Select	NP_000467.1:p.Tyr164Ter
NR_174625.1:n.3810_3811del
NR_174626.1:n.3653_3654del
NR_174627.1:n.3690_3691del
NR_174628.1:n.3068_3069del
NR_174629.1:n.3013_3014del
NR_174630.1:n.3049_3050del
NR_174631.1:n.2994_2995del
NR_174632.1:n.3083_3084del