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
Linked Data
ClinVar Variation Id:
492014
dbSNP Id:
rs747232389
ExAC:
1:45796990 GAGA / G
gnomAD v2:
1-45796990-GAGA-G
gnomAD v4:
1-45331318-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45331321_45331323del , CM000663.2:g.45331321_45331323del | GRCh38 |
| NC_000001.10:g.45796993_45796995del , CM000663.1:g.45796993_45796995del | GRCh37 |
| NC_000001.9:g.45569580_45569582del | NCBI36 |
| NG_008189.1:g.14150_14152del , LRG_220:g.14150_14152del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.869_871del | ENSP00000410263.2:p.Phe290del | |
| ENST00000435155.2:c.1286_1288del | ENSP00000403655.2:p.Phe429del | |
| ENST00000467459.6:c.*115_*117del | ENSP00000435889.2:n.*115_*117del | |
| ENST00000483127.2:c.1271_1273del | ENSP00000436469.2:p.Phe424del | |
| ENST00000485271.6:c.1253_1255del | ENSP00000431264.2:p.Phe418del | |
| ENST00000529892.6:c.1106_1108del | ENSP00000432528.2:p.Phe369del | |
| ENST00000533178.6:c.*582_*584del | ENSP00000436430.2:n.*582_*584del | |
| ENST00000672314.2:c.1253_1255del | ENSP00000500828.2:p.Phe418del | |
| ENST00000710952.2:c.1337_1339del MANE Plus Clinical | ENSP00000518552.2:p.Phe446del | |
| ENST00000672818.3:c.1328_1330del | ENSP00000500891.1:p.Phe443del | |
| ENST00000456914.7:c.1253_1255del MANE Select | ENSP00000407590.2:p.Phe418del | |
| ENST00000671898.1:c.1841_1843del | ENSP00000499896.1:p.Phe614del | |
| ENST00000672011.1:c.*582_*584del | ENSP00000500418.1:n.*582_*584del | |
| ENST00000672314.1:c.1253_1255del | ENSP00000500828.1:p.Phe418del | |
| ENST00000672818.2:c.1328_1330del | ENSP00000500891.1:p.Phe443del | |
| ENST00000673134.1:c.*950_*952del | ENSP00000500526.1:n.*950_*952del | |
| ENST00000354383.10:c.1256_1258del | ENSP00000346354.6:p.Phe419del | |
| ENST00000355498.6:c.1253_1255del | ENSP00000347685.2:p.Phe418del | |
| ENST00000372098.7:c.1328_1330del | ENSP00000361170.3:p.Phe443del | |
| ENST00000372104.5:c.1253_1255del | ENSP00000361176.1:p.Phe418del | |
| ENST00000372110.7:c.1298_1300del | ENSP00000361182.3:p.Phe433del | |
| ENST00000372115.7:c.1295_1297del | ENSP00000361187.3:p.Phe432del | |
| ENST00000448481.5:c.1286_1288del | ENSP00000409718.1:p.Phe429del | |
| ENST00000450313.5:c.1337_1339del | ENSP00000408176.1:p.Phe446del | |
| ENST00000456914.6:c.1253_1255del | ENSP00000407590.2:p.Phe418del | |
| ENST00000467459.5:c.670_672del | ENSP00000435889.1:n.670_672del | |
| ENST00000475516.5:c.*1066_*1068del | ENSP00000433843.1:n.*1066_*1068del | |
| ENST00000481571.5:c.*1066_*1068del | ENSP00000436597.1:n.*1066_*1068del | |
| ENST00000482094.5:n.574_576del | ||
| ENST00000488731.6:c.338_340del | ENSP00000432330.1:p.Phe113del | |
| ENST00000528013.6:c.1295_1297del | ENSP00000433130.2:p.Phe432del | |
| ENST00000529892.5:c.328_330del | ||
| ENST00000529984.5:c.338_340del | ENSP00000437093.1:p.Phe113del | |
| ENST00000531105.5:c.116-1884_116-1882del | ENSP00000431292.1:n.116-1884_116-1882del | |
| ENST00000533178.5:c.882_884del | ENSP00000436430.1:n.882_884del | |
| NM_001048171.1:c.1295_1297del | NP_001041636.1:p.Phe432del | |
| NM_001048172.1:c.1256_1258del | NP_001041637.1:p.Phe419del | |
| NM_001048173.1:c.1253_1255del | NP_001041638.1:p.Phe418del | |
| NM_001048174.1:c.1253_1255del | NP_001041639.1:p.Phe418del | |
| NM_001128425.1:c.1337_1339del , LRG_220t1:c.1337_1339del | NP_001121897.1:p.Phe446del | |
| NM_001293190.1:c.1298_1300del | NP_001280119.1:p.Phe433del | |
| NM_001293191.1:c.1286_1288del | NP_001280120.1:p.Phe429del | |
| NM_001293192.1:c.977_979del | NP_001280121.1:p.Phe326del | |
| NM_001293195.1:c.1253_1255del | NP_001280124.1:p.Phe418del | |
| NM_001293196.1:c.977_979del | NP_001280125.1:p.Phe326del | |
| NM_012222.2:c.1328_1330del | NP_036354.1:p.Phe443del | |
| XM_011541497.1:c.1313_1315del | XP_011539799.1:p.Phe438del | |
| XM_011541498.1:c.1295_1297del | XP_011539800.1:p.Phe432del | |
| XM_011541499.1:c.1295_1297del | XP_011539801.1:p.Phe432del | |
| XM_011541500.1:c.1295_1297del | XP_011539802.1:p.Phe432del | |
| XM_011541501.1:c.1295_1297del | XP_011539803.1:p.Phe432del | |
| XM_011541502.1:c.1295_1297del | XP_011539804.1:p.Phe432del | |
| XM_011541503.1:c.1295_1297del | XP_011539805.1:p.Phe432del | |
| XM_011541504.1:c.1286_1288del | XP_011539806.1:p.Phe429del | |
| XM_011541505.1:c.875_877del | XP_011539807.1:p.Phe292del | |
| XM_011541506.1:c.875_877del | XP_011539808.1:p.Phe292del | |
| XM_011541507.1:c.866_868del | XP_011539809.1:p.Phe289del | |
| XM_011541508.1:c.881_883del | XP_011539810.1:p.Phe294del | |
| XR_946658.1:n.1384_1386del | ||
| NM_001350650.1:c.908_910del | NP_001337579.1:p.Phe303del | |
| NM_001350651.1:c.908_910del | NP_001337580.1:p.Phe303del | |
| NR_146882.1:n.1511_1513del | ||
| NR_146883.1:n.1325_1327del | ||
| XM_011541497.3:c.1313_1315del | XP_011539799.1:p.Phe438del | |
| XM_011541500.3:c.1295_1297del | XP_011539802.1:p.Phe432del | |
| XM_011541501.2:c.1295_1297del | XP_011539803.1:p.Phe432del | |
| XM_011541502.2:c.1295_1297del | XP_011539804.1:p.Phe432del | |
| XM_011541503.2:c.1295_1297del | XP_011539805.1:p.Phe432del | |
| XM_011541504.2:c.1286_1288del | XP_011539806.1:p.Phe429del | |
| XM_011541505.2:c.875_877del | XP_011539807.1:p.Phe292del | |
| XM_011541506.2:c.875_877del | XP_011539808.1:p.Phe292del | |
| XM_017001331.1:c.1295_1297del | XP_016856820.1:p.Phe432del | |
| XM_017001332.1:c.1295_1297del | XP_016856821.1:p.Phe432del | |
| XM_017001333.1:c.1295_1297del | XP_016856822.1:p.Phe432del | |
| XM_017001334.1:c.1256_1258del | XP_016856823.1:p.Phe419del | |
| XM_017001335.1:c.977_979del | XP_016856824.1:p.Phe326del | |
| XM_017001336.1:c.908_910del | XP_016856825.1:p.Phe303del | |
| XM_017001337.1:c.908_910del | XP_016856826.1:p.Phe303del | |
| XM_024447244.1:c.908_910del | XP_024303012.1:p.Phe303del | |
| XM_024447245.1:c.908_910del | XP_024303013.1:p.Phe303del | |
| XM_024447248.1:c.866_868del | XP_024303016.1:p.Phe289del | |
| XM_024447249.1:c.737_739del | XP_024303017.1:p.Phe246del | |
| XM_024447250.1:c.737_739del | XP_024303018.1:p.Phe246del | |
| XM_024447251.1:c.737_739del | XP_024303019.1:p.Phe246del | |
| XR_001737190.1:n.1298_1300del | ||
| XR_001737192.1:n.1110_1112del | ||
| XR_002956643.1:n.1290_1292del | ||
| XR_002956644.1:n.1825_1827del | ||
| XR_946658.2:n.1398_1400del | ||
| NM_001048171.2:c.1253_1255del | NP_001041636.2:p.Phe418del | |
| NM_001128425.2:c.1337_1339del MANE Plus Clinical | NP_001121897.1:p.Phe446del | |
| NM_001048172.2:c.1256_1258del | NP_001041637.1:p.Phe419del | |
| NM_001048173.2:c.1253_1255del | NP_001041638.1:p.Phe418del | |
| NM_001048174.2:c.1253_1255del MANE Select | NP_001041639.1:p.Phe418del | |
| NM_001293190.2:c.1298_1300del | NP_001280119.1:p.Phe433del | |
| NM_001293191.2:c.1286_1288del | NP_001280120.1:p.Phe429del | |
| NM_001293192.2:c.977_979del | NP_001280121.1:p.Phe326del | |
| NM_001293195.2:c.1253_1255del | NP_001280124.1:p.Phe418del | |
| NM_001293196.2:c.977_979del | NP_001280125.1:p.Phe326del | |
| NM_001350650.2:c.908_910del | NP_001337579.1:p.Phe303del | |
| NM_001350651.2:c.908_910del | NP_001337580.1:p.Phe303del | |
| NM_012222.3:c.1328_1330del | NP_036354.1:p.Phe443del | |
| NR_146882.2:n.1481_1483del | ||
| NR_146883.2:n.1330_1332del |