ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89955482_89955483delinsTG , CM000670.2:g.89955482_89955483delinsTG | GRCh38 |
| NC_000008.10:g.90967710_90967711delinsTG , CM000670.1:g.90967710_90967711delinsTG | GRCh37 |
| NC_000008.9:g.91036886_91036887delinsTG | NCBI36 |
| NG_008860.1:g.34189_34190delinsCA , LRG_158:g.34189_34190delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2499_2500delinsCA | ||
| ENST00000517337.2:c.951_952delinsCA | ENSP00000429971.2:p.Ala318Thr | |
| ENST00000523444.2:c.951_952delinsCA | ENSP00000428252.2:p.Ala318Thr | |
| ENST00000697292.1:c.1197_1198delinsCA | ENSP00000513229.1:p.Ala400Thr | |
| ENST00000697293.1:c.1197_1198delinsCA | ENSP00000513230.1:p.Ala400Thr | |
| ENST00000697294.1:c.*808_*809delinsCA | ENSP00000513231.1:n.*808_*809delinsCA | |
| ENST00000697295.1:c.*506_*507delinsCA | ENSP00000513232.1:n.*506_*507delinsCA | |
| ENST00000697296.1:c.*865_*866delinsCA | ENSP00000513233.1:n.*865_*866delinsCA | |
| ENST00000697297.1:n.2982_2983delinsCA | ||
| ENST00000697298.1:c.951_952delinsCA | ENSP00000513234.1:p.Ala318Thr | |
| ENST00000697299.1:c.951_952delinsCA | ENSP00000513235.1:p.Ala318Thr | |
| ENST00000697300.1:c.*801_*802delinsCA | ENSP00000513236.1:n.*801_*802delinsCA | |
| ENST00000697301.1:c.*718_*719delinsCA | ENSP00000513237.1:n.*718_*719delinsCA | |
| ENST00000697302.1:c.*718_*719delinsCA | ENSP00000513238.1:n.*718_*719delinsCA | |
| ENST00000697303.1:c.*801_*802delinsCA | ENSP00000513239.1:n.*801_*802delinsCA | |
| ENST00000697304.1:c.885_886delinsCA | ENSP00000513240.1:p.Ala296Thr | |
| ENST00000697306.1:c.*197_*198delinsCA | ENSP00000513241.1:n.*197_*198delinsCA | |
| ENST00000697307.1:c.1197_1198delinsCA | ENSP00000513242.1:p.Ala400Thr | |
| ENST00000697308.1:c.1197_1198delinsCA | ENSP00000513243.1:p.Ala400Thr | |
| ENST00000697309.1:c.1197_1198delinsCA | ENSP00000513244.1:p.Ala400Thr | |
| ENST00000697310.1:c.1197_1198delinsCA | ENSP00000513245.1:p.Ala400Thr | |
| ENST00000697311.1:c.1197_1198delinsCA | ENSP00000513246.1:p.Ala400Thr | |
| ENST00000697312.1:c.*595_*596delinsCA | ENSP00000513247.1:n.*595_*596delinsCA | |
| ENST00000697313.1:n.2687+14881_2687+14882delinsCA | ||
| ENST00000697314.1:n.2988_2989delinsCA | ||
| ENST00000697315.1:c.1197_1198delinsCA | ENSP00000513248.1:p.Ala400Thr | |
| ENST00000697316.1:n.1318_1319delinsCA | ||
| ENST00000697317.1:n.1307_1308delinsCA | ||
| ENST00000697318.1:n.1309_1310delinsCA | ||
| ENST00000265433.8:c.1197_1198delinsCA MANE Select | ENSP00000265433.4:p.Ala400Thr | |
| ENST00000265433.7:c.1197_1198delinsCA | ENSP00000265433.3:p.Ala400Thr | |
| ENST00000396252.6:c.*1070_*1071delinsCA | ENSP00000379551.2:n.*1070_*1071delinsCA | |
| ENST00000409330.5:c.951_952delinsCA | ENSP00000386924.1:p.Ala318Thr | |
| NM_001024688.2:c.951_952delinsCA | NP_001019859.1:p.Ala318Thr | |
| NM_002485.4:c.1197_1198delinsCA , LRG_158t1:c.1197_1198delinsCA | NP_002476.2:p.Ala400Thr | |
| XM_011517044.1:c.1173_1174delinsCA | XP_011515346.1:p.Ala392Thr | |
| XM_011517045.1:c.951_952delinsCA | XP_011515347.1:p.Ala318Thr | |
| XM_011517046.1:c.1197_1198delinsCA | XP_011515348.1:p.Ala400Thr | |
| XR_928335.1:n.1334_1335delinsCA | ||
| XM_017013460.1:c.318_319delinsCA | XP_016868949.1:p.Ala107Thr | |
| XM_017013462.2:c.318_319delinsCA | XP_016868951.1:p.Ala107Thr | |
| XM_024447163.1:c.951_952delinsCA | XP_024302931.1:p.Ala318Thr | |
| XM_024447164.1:c.951_952delinsCA | XP_024302932.1:p.Ala318Thr | |
| XM_024447165.1:c.318_319delinsCA | XP_024302933.1:p.Ala107Thr | |
| NM_002485.5:c.1197_1198delinsCA MANE Select | NP_002476.2:p.Ala400Thr | |
| NM_001024688.3:c.951_952delinsCA | NP_001019859.1:p.Ala318Thr |