Linked Data
ClinVar Variation Id:
370922
ClinVar RCV Id:
RCV000410853
dbSNP Id:
rs1057516869
MyVariant Identifiers:
chr8:g.90958388_90958389delinsA (hg19)
chr8:g.89946160_89946161delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89946160_89946161delinsA , CM000670.2:g.89946160_89946161delinsA | GRCh38 |
| NC_000008.10:g.90958388_90958389delinsA , CM000670.1:g.90958388_90958389delinsA | GRCh37 |
| NC_000008.9:g.91027564_91027565delinsA | NCBI36 |
| NG_008860.1:g.43511_43512delinsT , LRG_158:g.43511_43512delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000494804.2:n.3351_3352delinsT | ||
| ENST00000517337.2:c.1803_1804delinsT | ENSP00000429971.2:p.Lys601AsnfsTer26 | |
| ENST00000523444.2:c.1803_1804delinsT | ENSP00000428252.2:p.Lys601AsnfsTer26 | |
| ENST00000697292.1:c.2049_2050delinsT | ENSP00000513229.1:p.Lys683AsnfsTer26 | |
| ENST00000697293.1:c.2049_2050delinsT | ENSP00000513230.1:p.Lys683AsnfsTer26 | |
| ENST00000697294.1:c.*1660_*1661delinsT | ENSP00000513231.1:n.*1660_*1661delinsT | |
| ENST00000697295.1:c.*1358_*1359delinsT | ENSP00000513232.1:n.*1358_*1359delinsT | |
| ENST00000697296.1:c.*1717_*1718delinsT | ENSP00000513233.1:n.*1717_*1718delinsT | |
| ENST00000697297.1:n.3834_3835delinsT | ||
| ENST00000697298.1:c.1803_1804delinsT | ENSP00000513234.1:p.Lys601AsnfsTer26 | |
| ENST00000697299.1:c.1803_1804delinsT | ENSP00000513235.1:p.Lys601AsnfsTer26 | |
| ENST00000697300.1:c.*1653_*1654delinsT | ENSP00000513236.1:n.*1653_*1654delinsT | |
| ENST00000697301.1:c.*1570_*1571delinsT | ENSP00000513237.1:n.*1570_*1571delinsT | |
| ENST00000697302.1:c.*1570_*1571delinsT | ENSP00000513238.1:n.*1570_*1571delinsT | |
| ENST00000697303.1:c.*1653_*1654delinsT | ENSP00000513239.1:n.*1653_*1654delinsT | |
| ENST00000697304.1:c.1737_1738delinsT | ENSP00000513240.1:p.Lys579AsnfsTer26 | |
| ENST00000697306.1:c.*2600_*2601delinsT | ENSP00000513241.1:n.*2600_*2601delinsT | |
| ENST00000697307.1:c.1846-2795_1846-2794delinsT | ENSP00000513242.1:n.1846-2795_1846-2794de... | |
| ENST00000697308.1:c.1980_1981delinsT | ENSP00000513243.1:p.Lys660AsnfsTer26 | |
| ENST00000697309.1:c.2049_2050delinsT | ENSP00000513244.1:p.Lys683AsnfsTer26 | |
| ENST00000697310.1:c.2049_2050delinsT | ENSP00000513245.1:p.Lys683AsnfsTer26 | |
| ENST00000697311.1:c.2049_2050delinsT | ENSP00000513246.1:p.Lys683AsnfsTer26 | |
| ENST00000697312.1:c.*1447_*1448delinsT | ENSP00000513247.1:n.*1447_*1448delinsT | |
| ENST00000697313.1:n.2688-10549_2688-10548delinsT | ||
| ENST00000697314.1:n.3636+7083_3636+7084delinsT | ||
| ENST00000697315.1:c.2049_2050delinsT | ENSP00000513248.1:p.Lys683AsnfsTer26 | |
| ENST00000697316.1:n.2170_2171delinsT | ||
| ENST00000697317.1:n.2140_2141delinsT | ||
| ENST00000265433.8:c.2049_2050delinsT MANE Select | ENSP00000265433.4:p.Lys683AsnfsTer26 | |
| ENST00000265433.7:c.2049_2050delinsT | ENSP00000265433.3:p.Lys683AsnfsTer26 | |
| ENST00000396252.6:c.*1922_*1923delinsT | ENSP00000379551.2:n.*1922_*1923delinsT | |
| ENST00000409330.5:c.1803_1804delinsT | ENSP00000386924.1:p.Lys601AsnfsTer26 | |
| ENST00000520325.1:n.465_466delinsT | ||
| ENST00000613033.1:c.180+1663_180+1664delinsT | ENSP00000484487.1:n.180+1663_180+1664deli... | |
| NM_001024688.2:c.1803_1804delinsT | NP_001019859.1:p.Lys601AsnfsTer26 | |
| NM_002485.4:c.2049_2050delinsT , LRG_158t1:c.2049_2050delinsT | NP_002476.2:p.Lys683AsnfsTer26 | |
| XM_011517044.1:c.2025_2026delinsT | XP_011515346.1:p.Lys675AsnfsTer26 | |
| XM_011517045.1:c.1803_1804delinsT | XP_011515347.1:p.Lys601AsnfsTer26 | |
| XM_017013460.1:c.1170_1171delinsT | XP_016868949.1:p.Lys390AsnfsTer26 | |
| XM_017013462.2:c.1170_1171delinsT | XP_016868951.1:p.Lys390AsnfsTer26 | |
| XM_024447163.1:c.1803_1804delinsT | XP_024302931.1:p.Lys601AsnfsTer26 | |
| XM_024447164.1:c.1803_1804delinsT | XP_024302932.1:p.Lys601AsnfsTer26 | |
| XM_024447165.1:c.1170_1171delinsT | XP_024302933.1:p.Lys390AsnfsTer26 | |
| NM_002485.5:c.2049_2050delinsT MANE Select | NP_002476.2:p.Lys683AsnfsTer26 | |
| NM_001024688.3:c.1803_1804delinsT | NP_001019859.1:p.Lys601AsnfsTer26 |