Linked Data
ClinVar Variation Id:
1075344
dbSNP Id:
rs1279184426
MyVariant Identifiers:
chr8:g.90965618_90965619insTAAC (hg19)
chr8:g.89953390_89953391insTAAC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89953392_89953395dup , CM000670.2:g.89953392_89953395dup | GRCh38 |
| NC_000008.10:g.90965620_90965623dup , CM000670.1:g.90965620_90965623dup | GRCh37 |
| NC_000008.9:g.91034796_91034799dup | NCBI36 |
| NG_008860.1:g.36278_36281dup , LRG_158:g.36278_36281dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2997_3000dup | ||
| ENST00000517337.2:c.1449_1452dup | ENSP00000429971.2:p.Phe485ValfsTer12 | |
| ENST00000523444.2:c.1449_1452dup | ENSP00000428252.2:p.Phe485ValfsTer12 | |
| ENST00000697292.1:c.1695_1698dup | ENSP00000513229.1:p.Phe567ValfsTer12 | |
| ENST00000697293.1:c.1695_1698dup | ENSP00000513230.1:p.Phe567ValfsTer12 | |
| ENST00000697294.1:c.*1306_*1309dup | ENSP00000513231.1:n.*1306_*1309dup | |
| ENST00000697295.1:c.*1004_*1007dup | ENSP00000513232.1:n.*1004_*1007dup | |
| ENST00000697296.1:c.*1363_*1366dup | ENSP00000513233.1:n.*1363_*1366dup | |
| ENST00000697297.1:n.3480_3483dup | ||
| ENST00000697298.1:c.1449_1452dup | ENSP00000513234.1:p.Phe485ValfsTer12 | |
| ENST00000697299.1:c.1449_1452dup | ENSP00000513235.1:p.Phe485ValfsTer12 | |
| ENST00000697300.1:c.*1299_*1302dup | ENSP00000513236.1:n.*1299_*1302dup | |
| ENST00000697301.1:c.*1216_*1219dup | ENSP00000513237.1:n.*1216_*1219dup | |
| ENST00000697302.1:c.*1216_*1219dup | ENSP00000513238.1:n.*1216_*1219dup | |
| ENST00000697303.1:c.*1299_*1302dup | ENSP00000513239.1:n.*1299_*1302dup | |
| ENST00000697304.1:c.1383_1386dup | ENSP00000513240.1:p.Phe463ValfsTer12 | |
| ENST00000697306.1:c.*695_*698dup | ENSP00000513241.1:n.*695_*698dup | |
| ENST00000697307.1:c.1695_1698dup | ENSP00000513242.1:p.Phe567ValfsTer12 | |
| ENST00000697308.1:c.1695_1698dup | ENSP00000513243.1:p.Phe567ValfsTer12 | |
| ENST00000697309.1:c.1695_1698dup | ENSP00000513244.1:p.Phe567ValfsTer12 | |
| ENST00000697310.1:c.1695_1698dup | ENSP00000513245.1:p.Phe567ValfsTer12 | |
| ENST00000697311.1:c.1695_1698dup | ENSP00000513246.1:p.Phe567ValfsTer12 | |
| ENST00000697312.1:c.*1093_*1096dup | ENSP00000513247.1:n.*1093_*1096dup | |
| ENST00000697313.1:n.2687+16970_2687+16973dup | ||
| ENST00000697314.1:n.3486_3489dup | ||
| ENST00000697315.1:c.1695_1698dup | ENSP00000513248.1:p.Phe567ValfsTer12 | |
| ENST00000697316.1:n.1816_1819dup | ||
| ENST00000697317.1:n.1805_1808dup | ||
| ENST00000697318.1:n.1807_1810dup | ||
| ENST00000265433.8:c.1695_1698dup MANE Select | ENSP00000265433.4:p.Phe567ValfsTer12 | |
| ENST00000265433.7:c.1695_1698dup | ENSP00000265433.3:p.Phe567ValfsTer12 | |
| ENST00000396252.6:c.*1568_*1571dup | ENSP00000379551.2:n.*1568_*1571dup | |
| ENST00000409330.5:c.1449_1452dup | ENSP00000386924.1:p.Phe485ValfsTer12 | |
| NM_001024688.2:c.1449_1452dup | NP_001019859.1:p.Phe485ValfsTer12 | |
| NM_002485.4:c.1695_1698dup , LRG_158t1:c.1695_1698dup | NP_002476.2:p.Phe567ValfsTer12 | |
| XM_011517044.1:c.1671_1674dup | XP_011515346.1:p.Phe559ValfsTer12 | |
| XM_011517045.1:c.1449_1452dup | XP_011515347.1:p.Phe485ValfsTer12 | |
| XR_928335.1:n.1834_1837dup | ||
| XM_017013460.1:c.816_819dup | XP_016868949.1:p.Phe274ValfsTer12 | |
| XM_017013462.2:c.816_819dup | XP_016868951.1:p.Phe274ValfsTer12 | |
| XM_024447163.1:c.1449_1452dup | XP_024302931.1:p.Phe485ValfsTer12 | |
| XM_024447164.1:c.1449_1452dup | XP_024302932.1:p.Phe485ValfsTer12 | |
| XM_024447165.1:c.816_819dup | XP_024302933.1:p.Phe274ValfsTer12 | |
| NM_002485.5:c.1695_1698dup MANE Select | NP_002476.2:p.Phe567ValfsTer12 | |
| NM_001024688.3:c.1449_1452dup | NP_001019859.1:p.Phe485ValfsTer12 |