Linked Data
ClinVar Variation Id:
91317
ClinVar RCV Id:
RCV000076830
RCV000115666
RCV000121837
RCV000144653
RCV000258972
RCV000524450
RCV000851295
RCV001254932
dbSNP Id:
rs63750250
ExAC:
7:6026564 A / AT
gnomAD v2:
7-6026564-A-AT
gnomAD v3:
7-5986933-A-AT
gnomAD v4:
7-5986933-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.5986937dup , CM000669.2:g.5986937dup | GRCh38 |
| NC_000007.13:g.6026568dup , CM000669.1:g.6026568dup | GRCh37 |
| NC_000007.12:g.5993094dup | NCBI36 |
| NG_008466.1:g.27173dup , LRG_161:g.27173dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699814.2:c.*1227dup | ENSP00000514615.2:n.*1227dup | |
| ENST00000699840.2:c.1828dup | ENSP00000514638.2:p.Ile610AsnfsTer2 | |
| ENST00000699930.2:c.1723dup | ENSP00000514695.2:p.Ile575AsnfsTer2 | |
| ENST00000406569.8:c.1678+153dup | ENSP00000514464.1:n.1678+153dup | |
| ENST00000644110.2:c.*1425dup | ENSP00000496392.2:n.*1425dup | |
| ENST00000699752.1:c.1675dup | ENSP00000514561.1:p.Ile559AsnfsTer2 | |
| ENST00000699753.1:c.*1252dup | ENSP00000514562.1:n.*1252dup | |
| ENST00000699754.1:c.1633dup | ENSP00000514563.1:p.Ile545AsnfsTer2 | |
| ENST00000699755.1:c.*1230dup | ENSP00000514564.1:n.*1230dup | |
| ENST00000699756.1:c.*1418dup | ENSP00000514565.1:n.*1418dup | |
| ENST00000699757.1:c.*1088dup | ENSP00000514566.1:n.*1088dup | |
| ENST00000699758.1:c.*1088dup | ENSP00000514567.1:n.*1088dup | |
| ENST00000699759.1:n.2685dup | ||
| ENST00000699760.1:c.1513dup | ENSP00000514568.1:p.Ile505AsnfsTer2 | |
| ENST00000699761.1:c.1426dup | ENSP00000514569.1:p.Ile476AsnfsTer2 | |
| ENST00000699762.1:c.1258dup | ENSP00000514570.1:p.Ile420AsnfsTer2 | |
| ENST00000699763.1:c.*921dup | ENSP00000514571.1:n.*921dup | |
| ENST00000699764.1:c.*149dup | ENSP00000514572.1:n.*149dup | |
| ENST00000699765.1:c.*927dup | ENSP00000514573.1:n.*927dup | |
| ENST00000699766.1:c.1831dup | ENSP00000514574.1:p.Ile611AsnfsTer2 | |
| ENST00000699767.1:c.1831dup | ENSP00000514575.1:p.Ile611AsnfsTer2 | |
| ENST00000699768.1:c.1831dup | ENSP00000514576.1:p.Ile611AsnfsTer2 | |
| ENST00000699811.1:c.1426dup | ENSP00000514614.1:p.Ile476AsnfsTer2 | |
| ENST00000699813.1:n.1944dup | ||
| ENST00000699814.1:c.1454dup | ||
| ENST00000699815.1:c.*1362dup | ENSP00000514616.1:n.*1362dup | |
| ENST00000699816.1:c.*721dup | ENSP00000514617.1:n.*721dup | |
| ENST00000699817.1:c.*1425dup | ENSP00000514618.1:n.*1425dup | |
| ENST00000699818.1:c.1426dup | ENSP00000514619.1:p.Ile476AsnfsTer2 | |
| ENST00000699819.1:c.*988dup | ENSP00000514620.1:n.*988dup | |
| ENST00000699820.1:c.1144+2866dup | ENSP00000514621.1:n.1144+2866dup | |
| ENST00000699821.1:c.1426dup | ENSP00000514622.1:p.Ile476AsnfsTer2 | |
| ENST00000699822.1:c.*1283dup | ENSP00000514623.1:n.*1283dup | |
| ENST00000699823.1:c.1426dup | ENSP00000514624.1:p.Ile476AsnfsTer2 | |
| ENST00000699824.1:c.*1334dup | ENSP00000514625.1:n.*1334dup | |
| ENST00000699825.1:c.1270dup | ENSP00000514626.1:p.Ile424AsnfsTer2 | |
| ENST00000699826.1:c.*1230dup | ENSP00000514627.1:n.*1230dup | |
| ENST00000699827.1:c.1663dup | ENSP00000514628.1:p.Ile555AsnfsTer2 | |
| ENST00000699828.1:c.*921dup | ENSP00000514629.1:n.*921dup | |
| ENST00000699833.1:n.3603dup | ||
| ENST00000699837.1:c.1426dup | ENSP00000514635.1:p.Ile476AsnfsTer2 | |
| ENST00000699838.1:c.*1731dup | ENSP00000514636.1:n.*1731dup | |
| ENST00000699839.1:c.2017dup | ENSP00000514637.1:p.Ile673AsnfsTer2 | |
| ENST00000699916.1:c.*1088dup | ENSP00000514684.1:n.*1088dup | |
| ENST00000699917.1:c.*1280dup | ENSP00000514685.1:n.*1280dup | |
| ENST00000699918.1:c.*1332dup | ENSP00000514686.1:n.*1332dup | |
| ENST00000699919.1:c.*1418dup | ENSP00000514687.1:n.*1418dup | |
| ENST00000699920.1:c.*1467dup | ENSP00000514688.1:n.*1467dup | |
| ENST00000699928.1:c.989-3943dup | ENSP00000514693.1:n.989-3943dup | |
| ENST00000699951.1:c.*927dup | ENSP00000514706.1:n.*927dup | |
| ENST00000699952.1:c.803+10392dup | ENSP00000514707.1:n.803+10392dup | |
| ENST00000265849.12:c.1831dup MANE Select | ENSP00000265849.7:p.Ile611AsnfsTer2 | |
| ENST00000642292.1:c.1426dup | ENSP00000495524.1:p.Ile476AsnfsTer2 | |
| ENST00000642456.1:c.1426dup | ENSP00000493814.1:p.Ile476AsnfsTer2 | |
| ENST00000643595.1:c.*1230dup | ENSP00000494497.1:n.*1230dup | |
| ENST00000644110.1:c.1513dup | ENSP00000496392.1:p.Ile505AsnfsTer2 | |
| ENST00000265849.11:c.1831dup | ENSP00000265849.7:p.Ile611AsnfsTer2 | |
| ENST00000382321.5:c.804-3943dup | ENSP00000371758.4:n.804-3943dup | |
| ENST00000406569.7:n.1678+153dup | ||
| ENST00000441476.6:c.1513dup | ENSP00000392843.2:p.Ile505AsnfsTer2 | |
| ENST00000469652.1:n.63-4029dup | ||
| NM_000535.5:c.1831dup , LRG_161t1:c.1831dup | NP_000526.1:p.Ile611AsnfsTer2 | |
| NR_003085.2:n.1913dup | ||
| XM_006715742.2:c.1825dup | XP_006715805.1:p.Ile609AsnfsTer2 | |
| XM_006715744.2:c.898dup | XP_006715807.1:p.Ile300AsnfsTer2 | |
| XM_011515427.1:c.1876dup | XP_011513729.1:p.Ile626AsnfsTer2 | |
| XM_011515428.1:c.1720dup | XP_011513730.1:p.Ile574AsnfsTer2 | |
| XM_011515429.1:c.1513dup | XP_011513731.1:p.Ile505AsnfsTer2 | |
| XM_011515430.1:c.1513dup | XP_011513732.1:p.Ile505AsnfsTer2 | |
| NM_000535.6:c.1831dup | NP_000526.2:p.Ile611AsnfsTer2 | |
| NM_001322003.1:c.1426dup | NP_001308932.1:p.Ile476AsnfsTer2 | |
| NM_001322004.1:c.1426dup | NP_001308933.1:p.Ile476AsnfsTer2 | |
| NM_001322005.1:c.1426dup | NP_001308934.1:p.Ile476AsnfsTer2 | |
| NM_001322006.1:c.1675dup | NP_001308935.1:p.Ile559AsnfsTer2 | |
| NM_001322007.1:c.1513dup | NP_001308936.1:p.Ile505AsnfsTer2 | |
| NM_001322008.1:c.1513dup | NP_001308937.1:p.Ile505AsnfsTer2 | |
| NM_001322009.1:c.1426dup | NP_001308938.1:p.Ile476AsnfsTer2 | |
| NM_001322010.1:c.1270dup | NP_001308939.1:p.Ile424AsnfsTer2 | |
| NM_001322011.1:c.898dup | NP_001308940.1:p.Ile300AsnfsTer2 | |
| NM_001322012.1:c.898dup | NP_001308941.1:p.Ile300AsnfsTer2 | |
| NM_001322013.1:c.1258dup | NP_001308942.1:p.Ile420AsnfsTer2 | |
| NM_001322014.1:c.1831dup | NP_001308943.1:p.Ile611AsnfsTer2 | |
| NM_001322015.1:c.1522dup | NP_001308944.1:p.Ile508AsnfsTer2 | |
| NR_136154.1:n.1918dup | ||
| XM_006715744.4:c.898dup | XP_006715807.1:p.Ile300AsnfsTer2 | |
| XM_017012342.2:c.898dup | XP_016867831.1:p.Ile300AsnfsTer2 | |
| XM_024446800.1:c.1270dup | XP_024302568.1:p.Ile424AsnfsTer2 | |
| NM_000535.7:c.1831dup MANE Select | NP_000526.2:p.Ile611AsnfsTer2 | |
| NM_001322003.2:c.1426dup | NP_001308932.1:p.Ile476AsnfsTer2 | |
| NM_001322004.2:c.1426dup | NP_001308933.1:p.Ile476AsnfsTer2 | |
| NM_001322005.2:c.1426dup | NP_001308934.1:p.Ile476AsnfsTer2 | |
| NM_001322006.2:c.1675dup | NP_001308935.1:p.Ile559AsnfsTer2 | |
| NM_001322008.2:c.1513dup | NP_001308937.1:p.Ile505AsnfsTer2 | |
| NM_001322009.2:c.1426dup | NP_001308938.1:p.Ile476AsnfsTer2 | |
| NM_001322010.2:c.1270dup | NP_001308939.1:p.Ile424AsnfsTer2 | |
| NM_001322011.2:c.898dup | NP_001308940.1:p.Ile300AsnfsTer2 | |
| NM_001322012.2:c.898dup | NP_001308941.1:p.Ile300AsnfsTer2 | |
| NM_001322013.2:c.1258dup | NP_001308942.1:p.Ile420AsnfsTer2 | |
| NM_001322014.2:c.1831dup | NP_001308943.1:p.Ile611AsnfsTer2 | |
| NM_001322015.2:c.1522dup | NP_001308944.1:p.Ile508AsnfsTer2 | |
| NM_001322007.2:c.1513dup | NP_001308936.1:p.Ile505AsnfsTer2 |