Linked Data
ClinVar Variation Id:
419181
dbSNP Id:
rs751035912
ExAC:
12:32786594 GAAGAA / G
gnomAD v2:
12-32786594-GAAGAA-G
gnomAD v3:
12-32633660-GAAGAA-G
gnomAD v4:
12-32633660-GAAGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32633674_32633678del , CM000674.2:g.32633674_32633678del | GRCh38 |
| NC_000012.11:g.32786608_32786612del , CM000674.1:g.32786608_32786612del | GRCh37 |
| NC_000012.10:g.32677875_32677879del | NCBI36 |
| NG_008626.2:g.239146_239150del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000427716.7:c.1887_1891del | ENSP00000394487.2:p.Lys630AsnfsTer5 | |
| ENST00000531134.7:c.2142_2146del | ENSP00000431323.1:p.Lys715AsnfsTer5 | |
| ENST00000583694.2:c.1887_1891del | ENSP00000462623.2:p.Lys630AsnfsTer5 | |
| ENST00000682739.1:c.1608_1612del | ENSP00000507616.1:p.Lys537AsnfsTer5 | |
| ENST00000683182.1:c.699_703del | ENSP00000507831.1:p.Lys234AsnfsTer5 | |
| ENST00000684033.1:n.685_689del | ||
| ENST00000525053.6:c.1887_1891del | ENSP00000433666.2:p.Lys630AsnfsTer5 | |
| ENST00000531134.6:c.2142_2146del | ENSP00000431323.1:p.Lys715AsnfsTer5 | |
| ENST00000534526.7:c.2298_2302del MANE Select | ENSP00000449273.1:p.Lys767AsnfsTer5 | |
| ENST00000395740.5:c.*1279_*1283del | ENSP00000379089.1:n.*1279_*1283del | |
| ENST00000427716.6:c.1887_1891del | ENSP00000394487.2:p.Lys630AsnfsTer5 | |
| ENST00000493087.5:c.*1298_*1302del | ENSP00000437109.1:n.*1298_*1302del | |
| ENST00000494977.1:c.1569_1573del | ||
| ENST00000525053.5:c.2223_2227del | ENSP00000433666.1:p.Lys742AsnfsTer5 | |
| ENST00000531134.5:c.2142_2146del | ENSP00000431323.1:p.Lys715AsnfsTer5 | |
| ENST00000534526.6:c.2298_2302del | ENSP00000449273.1:p.Lys767AsnfsTer5 | |
| ENST00000546442.5:c.1608_1612del | ENSP00000446695.1:p.Lys537AsnfsTer5 | |
| ENST00000551984.5:c.*1256_*1260del | ENSP00000449614.1:n.*1256_*1260del | |
| NM_001304480.1:c.2223_2227del | NP_001291409.1:p.Lys742AsnfsTer5 | |
| NM_001304481.1:c.2142_2146del | NP_001291410.1:p.Lys715AsnfsTer5 | |
| NM_001304483.1:c.1143_1147del | NP_001291412.1:p.Lys382AsnfsTer5 | |
| NM_001304484.1:c.855_859del | NP_001291413.1:p.Lys286AsnfsTer5 | |
| NM_139241.3:c.1887_1891del | NP_640334.2:p.Lys630AsnfsTer5 | |
| XM_005253304.3:c.2379_2383del | XP_005253361.1:p.Lys794AsnfsTer5 | |
| XM_005253307.2:c.1608_1612del | XP_005253364.1:p.Lys537AsnfsTer5 | |
| XM_005253308.3:c.1608_1612del | XP_005253365.1:p.Lys537AsnfsTer5 | |
| XM_005253309.1:c.1608_1612del | XP_005253366.1:p.Lys537AsnfsTer5 | |
| XM_005253310.3:c.1143_1147del | XP_005253367.1:p.Lys382AsnfsTer5 | |
| XM_011520554.1:c.2181_2185del | XP_011518856.1:p.Lys728AsnfsTer5 | |
| XM_011520555.1:c.1887_1891del | XP_011518857.1:p.Lys630AsnfsTer5 | |
| XM_011520556.1:c.1887_1891del | XP_011518858.1:p.Lys630AsnfsTer5 | |
| XM_011520557.1:c.1335_1339del | XP_011518859.1:p.Lys446AsnfsTer5 | |
| XM_011520558.1:c.1290_1294del | XP_011518860.1:p.Lys431AsnfsTer5 | |
| XM_011520559.1:c.1122_1126del | XP_011518861.1:p.Lys375AsnfsTer5 | |
| NM_001330373.1:c.1608_1612del | NP_001317302.1:p.Lys537AsnfsTer5 | |
| NM_001330374.1:c.1608_1612del | NP_001317303.1:p.Lys537AsnfsTer5 | |
| XM_005253304.4:c.2379_2383del | XP_005253361.1:p.Lys794AsnfsTer5 | |
| XM_005253308.5:c.1608_1612del | XP_005253365.1:p.Lys537AsnfsTer5 | |
| XM_005253310.4:c.1143_1147del | XP_005253367.1:p.Lys382AsnfsTer5 | |
| XM_011520558.2:c.1290_1294del | XP_011518860.1:p.Lys431AsnfsTer5 | |
| XM_011520559.3:c.1122_1126del | XP_011518861.1:p.Lys375AsnfsTer5 | |
| XM_017018803.1:c.2379_2383del | XP_016874292.1:p.Lys794AsnfsTer5 | |
| XM_017018805.1:c.1335_1339del | XP_016874294.1:p.Lys446AsnfsTer5 | |
| XM_024448837.1:c.1608_1612del | XP_024304605.1:p.Lys537AsnfsTer5 | |
| XM_024448838.1:c.1608_1612del | XP_024304606.1:p.Lys537AsnfsTer5 | |
| XM_024448839.1:c.1608_1612del | XP_024304607.1:p.Lys537AsnfsTer5 | |
| XM_024448840.1:c.996_1000del | XP_024304608.1:p.Lys333AsnfsTer5 | |
| NM_001370297.1:c.1335_1339del | NP_001357226.1:p.Lys446AsnfsTer5 | |
| NM_001370298.1:c.2379_2383del | NP_001357227.1:p.Lys794AsnfsTer5 | |
| NM_001304483.2:c.1143_1147del | NP_001291412.1:p.Lys382AsnfsTer5 | |
| NM_001304484.2:c.855_859del | NP_001291413.1:p.Lys286AsnfsTer5 | |
| NM_001330373.2:c.1608_1612del | NP_001317302.1:p.Lys537AsnfsTer5 | |
| NM_001330374.2:c.1608_1612del | NP_001317303.1:p.Lys537AsnfsTer5 | |
| NM_001370298.3:c.2298_2302del MANE Select | NP_001357227.2:p.Lys767AsnfsTer5 | |
| NM_001384126.1:c.2298_2302del | NP_001371055.1:p.Lys767AsnfsTer5 | |
| NM_001384127.1:c.1887_1891del | NP_001371056.1:p.Lys630AsnfsTer5 | |
| NM_001384128.1:c.1887_1891del | NP_001371057.1:p.Lys630AsnfsTer5 | |
| NM_001384130.1:c.1608_1612del | NP_001371059.1:p.Lys537AsnfsTer5 | |
| NM_001385118.1:c.1887_1891del | NP_001372047.1:p.Lys630AsnfsTer5 |