Linked Data
dbSNP Id:
rs774789161
ExAC:
8:90958571 A / AAAGGTAG
MyVariant Identifiers:
chr8:g.90958571_90958572insAAGGTAG (hg19)
chr8:g.89946343_89946344insAAGGTAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946343_89946344insAAGGTAG , CM000670.2:g.89946343_89946344insAAGGTAG | GRCh38 |
| NC_000008.10:g.90958571_90958572insAAGGTAG , CM000670.1:g.90958571_90958572insAAGGTAG | GRCh37 |
| NC_000008.9:g.91027747_91027748insAAGGTAG | NCBI36 |
| NG_008860.1:g.43328_43329insCTACCTT , LRG_158:g.43328_43329insCTACCTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.3217-49_3217-48insCTACCTT | ||
| ENST00000517337.2:c.1669-49_1669-48insCTACCTT | ENSP00000429971.2:n.1669-49_1669-48insCTACCTT | |
| ENST00000523444.2:c.1669-49_1669-48insCTACCTT | ENSP00000428252.2:n.1669-49_1669-48insCTACCTT | |
| ENST00000697292.1:c.1915-49_1915-48insCTACCTT | ENSP00000513229.1:n.1915-49_1915-48insCTACCTT | |
| ENST00000697293.1:c.1915-49_1915-48insCTACCTT | ENSP00000513230.1:n.1915-49_1915-48insCTACCTT | |
| ENST00000697294.1:c.*1526-49_*1526-48insCTACCTT | ENSP00000513231.1:n.*1526-49_*1526-48insCTACCTT | |
| ENST00000697295.1:c.*1224-49_*1224-48insCTACCTT | ENSP00000513232.1:n.*1224-49_*1224-48insCTACCTT | |
| ENST00000697296.1:c.*1583-49_*1583-48insCTACCTT | ENSP00000513233.1:n.*1583-49_*1583-48insCTACCTT | |
| ENST00000697297.1:n.3700-49_3700-48insCTACCTT | ||
| ENST00000697298.1:c.1669-49_1669-48insCTACCTT | ENSP00000513234.1:n.1669-49_1669-48insCTACCTT | |
| ENST00000697299.1:c.1669-49_1669-48insCTACCTT | ENSP00000513235.1:n.1669-49_1669-48insCTACCTT | |
| ENST00000697300.1:c.*1519-49_*1519-48insCTACCTT | ENSP00000513236.1:n.*1519-49_*1519-48insCTACCTT | |
| ENST00000697301.1:c.*1436-49_*1436-48insCTACCTT | ENSP00000513237.1:n.*1436-49_*1436-48insCTACCTT | |
| ENST00000697302.1:c.*1436-49_*1436-48insCTACCTT | ENSP00000513238.1:n.*1436-49_*1436-48insCTACCTT | |
| ENST00000697303.1:c.*1519-49_*1519-48insCTACCTT | ENSP00000513239.1:n.*1519-49_*1519-48insCTACCTT | |
| ENST00000697304.1:c.1603-49_1603-48insCTACCTT | ENSP00000513240.1:n.1603-49_1603-48insCTACCTT | |
| ENST00000697306.1:c.*2417_*2418insCTACCTT | ENSP00000513241.1:n.*2417_*2418insCTACCTT | |
| ENST00000697307.1:c.1846-2978_1846-2977insCTACCTT | ENSP00000513242.1:n.1846-2978_1846-2977insCTACCTT | |
| ENST00000697308.1:c.1846-49_1846-48insCTACCTT | ENSP00000513243.1:n.1846-49_1846-48insCTACCTT | |
| ENST00000697309.1:c.1915-49_1915-48insCTACCTT | ENSP00000513244.1:n.1915-49_1915-48insCTACCTT | |
| ENST00000697310.1:c.1915-49_1915-48insCTACCTT | ENSP00000513245.1:n.1915-49_1915-48insCTACCTT | |
| ENST00000697311.1:c.1915-49_1915-48insCTACCTT | ENSP00000513246.1:n.1915-49_1915-48insCTACCTT | |
| ENST00000697312.1:c.*1313-49_*1313-48insCTACCTT | ENSP00000513247.1:n.*1313-49_*1313-48insCTACCTT | |
| ENST00000697313.1:n.2688-10732_2688-10731insCTACCTT | ||
| ENST00000697314.1:n.3636+6900_3636+6901insCTACCTT | ||
| ENST00000697315.1:c.1915-49_1915-48insCTACCTT | ENSP00000513248.1:n.1915-49_1915-48insCTACCTT | |
| ENST00000697316.1:n.2036-49_2036-48insCTACCTT | ||
| ENST00000697317.1:n.2006-49_2006-48insCTACCTT | ||
| ENST00000265433.8:c.1915-49_1915-48insCTACCTT MANE Select | ENSP00000265433.4:n.1915-49_1915-48insCTACCTT | |
| ENST00000265433.7:c.1915-49_1915-48insCTACCTT | ENSP00000265433.3:n.1915-49_1915-48insCTACCTT | |
| ENST00000396252.6:c.*1788-49_*1788-48insCTACCTT | ENSP00000379551.2:n.*1788-49_*1788-48insCTACCTT | |
| ENST00000409330.5:c.1669-49_1669-48insCTACCTT | ENSP00000386924.1:n.1669-49_1669-48insCTACCTT | |
| ENST00000520325.1:n.282_283insCTACCTT | ||
| ENST00000613033.1:c.180+1480_180+1481insCTACCTT | ENSP00000484487.1:n.180+1480_180+1481insCTACCTT | |
| NM_001024688.2:c.1669-49_1669-48insCTACCTT | NP_001019859.1:n.1669-49_1669-48insCTACCTT | |
| NM_002485.4:c.1915-49_1915-48insCTACCTT , LRG_158t1:c.1915-49_1915-48insCTACCTT | NP_002476.2:n.1915-49_1915-48insCTACCTT | |
| XM_011517044.1:c.1891-49_1891-48insCTACCTT | XP_011515346.1:n.1891-49_1891-48insCTACCTT | |
| XM_011517045.1:c.1669-49_1669-48insCTACCTT | XP_011515347.1:n.1669-49_1669-48insCTACCTT | |
| XR_928335.1:n.2054-49_2054-48insCTACCTT | ||
| XM_017013460.1:c.1036-49_1036-48insCTACCTT | XP_016868949.1:n.1036-49_1036-48insCTACCTT | |
| XM_017013462.2:c.1036-49_1036-48insCTACCTT | XP_016868951.1:n.1036-49_1036-48insCTACCTT | |
| XM_024447163.1:c.1669-49_1669-48insCTACCTT | XP_024302931.1:n.1669-49_1669-48insCTACCTT | |
| XM_024447164.1:c.1669-49_1669-48insCTACCTT | XP_024302932.1:n.1669-49_1669-48insCTACCTT | |
| XM_024447165.1:c.1036-49_1036-48insCTACCTT | XP_024302933.1:n.1036-49_1036-48insCTACCTT | |
| NM_002485.5:c.1915-49_1915-48insCTACCTT MANE Select | NP_002476.2:n.1915-49_1915-48insCTACCTT | |
| NM_001024688.3:c.1669-49_1669-48insCTACCTT | NP_001019859.1:n.1669-49_1669-48insCTACCTT |