ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5987357_5987358delinsAC , CM000669.2:g.5987357_5987358delinsAC | GRCh38 |
| NC_000007.13:g.6026988_6026989delinsAC , CM000669.1:g.6026988_6026989delinsAC | GRCh37 |
| NC_000007.12:g.5993514_5993515delinsAC | NCBI36 |
| NG_008466.1:g.26749_26750delinsGT , LRG_161:g.26749_26750delinsGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*803_*804delinsGT | ENSP00000514615.2:n.*803_*804delinsGT | |
| ENST00000699840.2:c.1404_1405delinsGT | ENSP00000514638.2:p.Pro469Ser | |
| ENST00000699930.2:c.1299_1300delinsGT | ENSP00000514695.2:p.Pro434Ser | |
| ENST00000406569.8:c.1407_1408delinsGT | ENSP00000514464.1:p.Pro470Ser | |
| ENST00000644110.2:c.*1001_*1002delinsGT | ENSP00000496392.2:n.*1001_*1002delinsGT | |
| ENST00000699752.1:c.1251_1252delinsGT | ENSP00000514561.1:p.Pro418Ser | |
| ENST00000699753.1:c.*828_*829delinsGT | ENSP00000514562.1:n.*828_*829delinsGT | |
| ENST00000699754.1:c.1209_1210delinsGT | ENSP00000514563.1:p.Pro404Ser | |
| ENST00000699755.1:c.*806_*807delinsGT | ENSP00000514564.1:n.*806_*807delinsGT | |
| ENST00000699756.1:c.*994_*995delinsGT | ENSP00000514565.1:n.*994_*995delinsGT | |
| ENST00000699757.1:c.*664_*665delinsGT | ENSP00000514566.1:n.*664_*665delinsGT | |
| ENST00000699758.1:c.*664_*665delinsGT | ENSP00000514567.1:n.*664_*665delinsGT | |
| ENST00000699759.1:n.2261_2262delinsGT | ||
| ENST00000699760.1:c.1089_1090delinsGT | ENSP00000514568.1:p.Pro364Ser | |
| ENST00000699761.1:c.1002_1003delinsGT | ENSP00000514569.1:p.Pro335Ser | |
| ENST00000699762.1:c.834_835delinsGT | ENSP00000514570.1:p.Pro279Ser | |
| ENST00000699763.1:c.*497_*498delinsGT | ENSP00000514571.1:n.*497_*498delinsGT | |
| ENST00000699764.1:c.1407_1408delinsGT | ENSP00000514572.1:p.Pro470Ser | |
| ENST00000699765.1:c.*503_*504delinsGT | ENSP00000514573.1:n.*503_*504delinsGT | |
| ENST00000699766.1:c.1407_1408delinsGT | ENSP00000514574.1:p.Pro470Ser | |
| ENST00000699767.1:c.1407_1408delinsGT | ENSP00000514575.1:p.Pro470Ser | |
| ENST00000699768.1:c.1407_1408delinsGT | ENSP00000514576.1:p.Pro470Ser | |
| ENST00000699811.1:c.1002_1003delinsGT | ENSP00000514614.1:p.Pro335Ser | |
| ENST00000699813.1:n.1520_1521delinsGT | ||
| ENST00000699814.1:c.1030_1031delinsGT | ||
| ENST00000699815.1:c.*938_*939delinsGT | ENSP00000514616.1:n.*938_*939delinsGT | |
| ENST00000699816.1:c.*297_*298delinsGT | ENSP00000514617.1:n.*297_*298delinsGT | |
| ENST00000699817.1:c.*1001_*1002delinsGT | ENSP00000514618.1:n.*1001_*1002delinsGT | |
| ENST00000699818.1:c.1002_1003delinsGT | ENSP00000514619.1:p.Pro335Ser | |
| ENST00000699819.1:c.*564_*565delinsGT | ENSP00000514620.1:n.*564_*565delinsGT | |
| ENST00000699820.1:c.1144+2442_1144+2443delinsGT | ENSP00000514621.1:n.1144+2442_1144+2443delinsGT | |
| ENST00000699821.1:c.1002_1003delinsGT | ENSP00000514622.1:p.Pro335Ser | |
| ENST00000699822.1:c.*859_*860delinsGT | ENSP00000514623.1:n.*859_*860delinsGT | |
| ENST00000699823.1:c.1002_1003delinsGT | ENSP00000514624.1:p.Pro335Ser | |
| ENST00000699824.1:c.*910_*911delinsGT | ENSP00000514625.1:n.*910_*911delinsGT | |
| ENST00000699825.1:c.846_847delinsGT | ENSP00000514626.1:p.Pro283Ser | |
| ENST00000699826.1:c.*806_*807delinsGT | ENSP00000514627.1:n.*806_*807delinsGT | |
| ENST00000699827.1:c.1239_1240delinsGT | ENSP00000514628.1:p.Pro414Ser | |
| ENST00000699828.1:c.*497_*498delinsGT | ENSP00000514629.1:n.*497_*498delinsGT | |
| ENST00000699833.1:n.3179_3180delinsGT | ||
| ENST00000699837.1:c.1002_1003delinsGT | ENSP00000514635.1:p.Pro335Ser | |
| ENST00000699838.1:c.*1307_*1308delinsGT | ENSP00000514636.1:n.*1307_*1308delinsGT | |
| ENST00000699839.1:c.1593_1594delinsGT | ENSP00000514637.1:p.Pro532Ser | |
| ENST00000699916.1:c.*664_*665delinsGT | ENSP00000514684.1:n.*664_*665delinsGT | |
| ENST00000699917.1:c.*856_*857delinsGT | ENSP00000514685.1:n.*856_*857delinsGT | |
| ENST00000699918.1:c.*908_*909delinsGT | ENSP00000514686.1:n.*908_*909delinsGT | |
| ENST00000699919.1:c.*994_*995delinsGT | ENSP00000514687.1:n.*994_*995delinsGT | |
| ENST00000699920.1:c.*1043_*1044delinsGT | ENSP00000514688.1:n.*1043_*1044delinsGT | |
| ENST00000699928.1:c.989-4367_989-4366delinsGT | ENSP00000514693.1:n.989-4367_989-4366delinsGT | |
| ENST00000699929.1:c.*708_*709delinsGT | ENSP00000514694.1:n.*708_*709delinsGT | |
| ENST00000699930.1:c.1299_1300delinsGT | ENSP00000514695.1:p.Pro434Ser | |
| ENST00000699931.1:n.2835_2836delinsGT | ||
| ENST00000699951.1:c.*503_*504delinsGT | ENSP00000514706.1:n.*503_*504delinsGT | |
| ENST00000699952.1:c.803+9968_803+9969delinsGT | ENSP00000514707.1:n.803+9968_803+9969delinsGT | |
| ENST00000699953.1:c.*514_*515delinsGT | ENSP00000514708.1:n.*514_*515delinsGT | |
| ENST00000699954.1:c.*708_*709delinsGT | ENSP00000514709.1:n.*708_*709delinsGT | |
| ENST00000265849.12:c.1407_1408delinsGT MANE Select | ENSP00000265849.7:p.Pro470Ser | |
| ENST00000642292.1:c.1002_1003delinsGT | ENSP00000495524.1:p.Pro335Ser | |
| ENST00000642456.1:c.1002_1003delinsGT | ENSP00000493814.1:p.Pro335Ser | |
| ENST00000643595.1:c.*806_*807delinsGT | ENSP00000494497.1:n.*806_*807delinsGT | |
| ENST00000644110.1:c.1089_1090delinsGT | ENSP00000496392.1:p.Pro364Ser | |
| ENST00000265849.11:c.1407_1408delinsGT | ENSP00000265849.7:p.Pro470Ser | |
| ENST00000382321.5:c.804-4367_804-4366delinsGT | ENSP00000371758.4:n.804-4367_804-4366delinsGT | |
| ENST00000406569.7:n.1407_1408delinsGT | ||
| ENST00000441476.6:c.1089_1090delinsGT | ENSP00000392843.2:p.Pro364Ser | |
| ENST00000469652.1:n.63-4453_63-4452delinsGT | ||
| NM_000535.5:c.1407_1408delinsGT , LRG_161t1:c.1407_1408delinsGT | NP_000526.1:p.Pro470Ser | |
| NR_003085.2:n.1489_1490delinsGT | ||
| XM_006715742.2:c.1401_1402delinsGT | XP_006715805.1:p.Pro468Ser | |
| XM_006715744.2:c.474_475delinsGT | XP_006715807.1:p.Pro159Ser | |
| XM_011515427.1:c.1452_1453delinsGT | XP_011513729.1:p.Pro485Ser | |
| XM_011515428.1:c.1296_1297delinsGT | XP_011513730.1:p.Pro433Ser | |
| XM_011515429.1:c.1089_1090delinsGT | XP_011513731.1:p.Pro364Ser | |
| XM_011515430.1:c.1089_1090delinsGT | XP_011513732.1:p.Pro364Ser | |
| NM_000535.6:c.1407_1408delinsGT | NP_000526.2:p.Pro470Ser | |
| NM_001322003.1:c.1002_1003delinsGT | NP_001308932.1:p.Pro335Ser | |
| NM_001322004.1:c.1002_1003delinsGT | NP_001308933.1:p.Pro335Ser | |
| NM_001322005.1:c.1002_1003delinsGT | NP_001308934.1:p.Pro335Ser | |
| NM_001322006.1:c.1251_1252delinsGT | NP_001308935.1:p.Pro418Ser | |
| NM_001322007.1:c.1089_1090delinsGT | NP_001308936.1:p.Pro364Ser | |
| NM_001322008.1:c.1089_1090delinsGT | NP_001308937.1:p.Pro364Ser | |
| NM_001322009.1:c.1002_1003delinsGT | NP_001308938.1:p.Pro335Ser | |
| NM_001322010.1:c.846_847delinsGT | NP_001308939.1:p.Pro283Ser | |
| NM_001322011.1:c.474_475delinsGT | NP_001308940.1:p.Pro159Ser | |
| NM_001322012.1:c.474_475delinsGT | NP_001308941.1:p.Pro159Ser | |
| NM_001322013.1:c.834_835delinsGT | NP_001308942.1:p.Pro279Ser | |
| NM_001322014.1:c.1407_1408delinsGT | NP_001308943.1:p.Pro470Ser | |
| NM_001322015.1:c.1098_1099delinsGT | NP_001308944.1:p.Pro367Ser | |
| NR_136154.1:n.1494_1495delinsGT | ||
| XM_006715744.4:c.474_475delinsGT | XP_006715807.1:p.Pro159Ser | |
| XM_017012342.2:c.474_475delinsGT | XP_016867831.1:p.Pro159Ser | |
| XM_024446800.1:c.846_847delinsGT | XP_024302568.1:p.Pro283Ser | |
| NM_000535.7:c.1407_1408delinsGT MANE Select | NP_000526.2:p.Pro470Ser | |
| NM_001322003.2:c.1002_1003delinsGT | NP_001308932.1:p.Pro335Ser | |
| NM_001322004.2:c.1002_1003delinsGT | NP_001308933.1:p.Pro335Ser | |
| NM_001322005.2:c.1002_1003delinsGT | NP_001308934.1:p.Pro335Ser | |
| NM_001322006.2:c.1251_1252delinsGT | NP_001308935.1:p.Pro418Ser | |
| NM_001322008.2:c.1089_1090delinsGT | NP_001308937.1:p.Pro364Ser | |
| NM_001322009.2:c.1002_1003delinsGT | NP_001308938.1:p.Pro335Ser | |
| NM_001322010.2:c.846_847delinsGT | NP_001308939.1:p.Pro283Ser | |
| NM_001322011.2:c.474_475delinsGT | NP_001308940.1:p.Pro159Ser | |
| NM_001322012.2:c.474_475delinsGT | NP_001308941.1:p.Pro159Ser | |
| NM_001322013.2:c.834_835delinsGT | NP_001308942.1:p.Pro279Ser | |
| NM_001322014.2:c.1407_1408delinsGT | NP_001308943.1:p.Pro470Ser | |
| NM_001322015.2:c.1098_1099delinsGT | NP_001308944.1:p.Pro367Ser | |
| NM_001322007.2:c.1089_1090delinsGT | NP_001308936.1:p.Pro364Ser |