OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.[29942940A>G;29942942G>A;29942944G>C;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943024C>A;29943286T>G;29943287A>G;29943309T>C;29943337G>A;29943347C>T;29943426A>C;29943441G>A;29943463T>G;29943479T>G;29943483A>C;29943484C>G] , CM000668.2:g.[29942940A>G;29942942G>A;29942944G>C;29942965G>C;29942982T>A;29942984G>A;29942985A>G;29942990G>C;29942994C>T;29942996C>G;29942997T>C;29943000G>T;29943002G>C;29943024C>A;29943286T>G;29943287A>G;29943309T>C;29943337G>A;29943347C>T;29943426A>C;29943441G>A;29943463T>G;29943479T>G;29943483A>C;29943484C>G] | GRCh38 |
| NC_000006.11:g.[29910717A>G;29910719G>A;29910721G>C;29910742G>C;29910759T>A;29910761G>A;29910762A>G;29910767G>C;29910771C>T;29910773C>G;29910774T>C;29910777G>T;29910779G>C;29910801C>A;29911063T>G;29911064A>G;29911086T>C;29911114G>A;29911124C>T;29911203A>C;29911218G>A;29911240T>G;29911256T>G;29911260A>C;29911261C>G] , CM000668.1:g.[29910717A>G;29910719G>A;29910721G>C;29910742G>C;29910759T>A;29910761G>A;29910762A>G;29910767G>C;29910771C>T;29910773C>G;29910774T>C;29910777G>T;29910779G>C;29910801C>A;29911063T>G;29911064A>G;29911086T>C;29911114G>A;29911124C>T;29911203A>C;29911218G>A;29911240T>G;29911256T>G;29911260A>C;29911261C>G] | GRCh37 |
| NC_000006.10:g.[30018696A>G;30018698G>A;30018700G>C;30018721G>C;30018738T>A;30018740G>A;30018741A>G;30018746G>C;30018750C>T;30018752C>G;30018753T>C;30018756G>T;30018758G>C;30018780C>A;30019042T>G;30019043A>G;30019065T>C;30019093G>A;30019103C>T;30019182A>C;30019197G>A;30019219T>G;30019235T>G;30019239A>C;30019240C>G] | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000638375.2:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000492789.2:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706892.1:n.[533A>G;535G>A;537G>C;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;617C>A;638T>G;639A>G;661T>C;689G>A;699C>T;778A>C;793G>A;815T>G;831T>G;835A>C;836C>G] | ||
| ENST00000706893.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516609.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706894.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516610.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706895.1:n.[533A>G;535G>A;537G>C;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;617C>A;638T>G;639A>G;661T>C;689G>A;699C>T;778A>C;793G>A;815T>G;831T>G;835A>C;836C>G] | ||
| ENST00000706896.1:n.[533A>G;535G>A;537G>C;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;617C>A;638T>G;639A>G;661T>C;689G>A;699C>T;778A>C;793G>A;815T>G;831T>G;835A>C;836C>G] | ||
| ENST00000706897.1:n.[533A>G;535G>A;537G>C;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;617C>A;638T>G;639A>G;661T>C;689G>A;699C>T;778A>C;793G>A;815T>G;831T>G;835A>C;836C>G] | ||
| ENST00000706898.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516611.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706899.1:n.[533A>G;535G>A;537G>C;558G>C;575T>A;577G>A;578A>G;583G>C;587C>T;589C>G;590T>C;593G>T;595G>C;617C>A;638T>G;639A>G;661T>C;689G>A;699C>T;778A>C;793G>A;815T>G;831T>G;835A>C;836C>G] | ||
| ENST00000706900.1:c.[173A>G;175G>A;177G>C;198G>C;215T>A;217G>A;218A>G;223G>C;227C>T;229C>G;230T>C;233G>T;235G>C;257C>A;278T>G;279A>G;301T>C;329G>A;339C>T;418A>C;433G>A;455T>G;471T>G;475A>C;476C>G] | ENSP00000516617.1:p.[Gln58Arg;Glu59Asn;Gln66His;Val72Glu;Asp7... | |
| ENST00000706901.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516612.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706902.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516613.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706903.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516614.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706904.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516615.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000706905.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000516616.1:p.[Gln86Arg;Glu87Lys;Glu87Asp;Gln94His;Val1... | |
| ENST00000376809.10:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] MANE Select | ENSP00000366005.5:p.[Gln86Arg;Glu87Thr;Gln94His;Val100Glu;Asp... | |
| ENST00000638375.1:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000492789.1:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000376802.2:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000365998.2:p.[Gln86Arg;Glu87Lys;Glu87Asp;Gln94His;Val1... | |
| ENST00000376806.9:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000366002.5:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000376809.9:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000366005.5:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94Hi... | |
| ENST00000396634.5:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | ENSP00000379873.1:p.[Gln86Arg;Glu87Lys;Glu87Asp;Gln94His;Val1... | |
| ENST00000461903.1:n.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;603T>G;604A>G;626T>C;654G>A;664C>T;743A>C;758G>A;780T>G;796T>G;800A>C;801C>G] | ||
| ENST00000479320.5:n.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;603T>G;604A>G;626T>C;654G>A;664C>T;743A>C;758G>A;780T>G;796T>G;800A>C;801C>G] | ||
| ENST00000495183.5:n.[259A>G;261G>A;263G>C;284G>C;301T>A;303G>A;304A>G;309G>C;313C>T;315C>G;316T>C;319G>T;321G>C;343C>A;605T>G;606A>G;628T>C;656G>A;666C>T;745A>C;760G>A;782T>G;798T>G;802A>C;803C>G] | ||
| ENST00000496081.5:n.[177+86A>G;177+88G>A;177+90G>C;177+111G>C;177+128T>A;177+130G>A;177+131A>G;177+136G>C;177+140C>T;177+142C>G;177+143T>C;177+146G>T;177+148G>C;177+170C>A;179T>G;180A>G;202T>C;230G>A;240C>T;319A>C;334G>A;356T>G;372T>G;376A>C;377C>G] | ||
| NM_002116.7:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] | NP_002107.3:p.[Gln86_Glu87delinsArgLys;Glu87Asp;Gln94His;Val1... | |
| NM_002116.8:c.[257A>G;259G>A;261G>C;282G>C;299T>A;301G>A;302A>G;307G>C;311C>T;313C>G;314T>C;317G>T;319G>C;341C>A;362T>G;363A>G;385T>C;413G>A;423C>T;502A>C;517G>A;539T>G;555T>G;559A>C;560C>G] MANE Select | NP_002107.3:p.[Gln86Arg;Glu87Thr;Gln94His;Val100Glu;Asp101Ser... |