Linked Data
dbSNP Id:
rs760291210
ExAC:
1:45796208 G / GCAACA
gnomAD v2:
1-45796208-G-GCAACA
MyVariant Identifiers:
chr1:g.45796208_45796209insCAACA (hg19)
chr1:g.45330536_45330537insCAACA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45330536_45330537insCAACA , CM000663.2:g.45330536_45330537insCAACA | GRCh38 |
| NC_000001.10:g.45796208_45796209insCAACA , CM000663.1:g.45796208_45796209insCAACA | GRCh37 |
| NC_000001.9:g.45568795_45568796insCAACA | NCBI36 |
| NG_008189.1:g.14934_14935insTGTTG , LRG_220:g.14934_14935insTGTTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.1029_1030insTGTTG | ENSP00000410263.2:p.Gln344CysfsTer? | |
| ENST00000435155.2:c.1446_1447insTGTTG | ENSP00000403655.2:p.Gln483CysfsTer? | |
| ENST00000467459.6:c.*275_*276insTGTTG | ENSP00000435889.2:n.*275_*276insTGTTG | |
| ENST00000483127.2:c.1431_1432insTGTTG | ENSP00000436469.2:p.Gln478CysfsTer? | |
| ENST00000485271.6:c.1413_1414insTGTTG | ENSP00000431264.2:p.Gln472CysfsTer17 | |
| ENST00000529892.6:c.1266_1267insTGTTG | ENSP00000432528.2:p.Gln423CysfsTer? | |
| ENST00000533178.6:c.*742_*743insTGTTG | ENSP00000436430.2:n.*742_*743insTGTTG | |
| ENST00000672314.2:c.1413_1414insTGTTG | ENSP00000500828.2:p.Gln472CysfsTer? | |
| ENST00000710952.2:c.1497_1498insTGTTG MANE Plus Clinical | ENSP00000518552.2:p.Gln500CysfsTer? | |
| ENST00000672818.3:c.1488_1489insTGTTG | ENSP00000500891.1:p.Gln497CysfsTer? | |
| ENST00000456914.7:c.1413_1414insTGTTG MANE Select | ENSP00000407590.2:p.Gln472CysfsTer? | |
| ENST00000671898.1:c.2001_2002insTGTTG | ENSP00000499896.1:p.Gln668CysfsTer17 | |
| ENST00000672011.1:c.*742_*743insTGTTG | ENSP00000500418.1:n.*742_*743insTGTTG | |
| ENST00000672818.2:c.1488_1489insTGTTG | ENSP00000500891.1:p.Gln497CysfsTer? | |
| ENST00000673134.1:c.*1110_*1111insTGTTG | ENSP00000500526.1:n.*1110_*1111insTGTTG | |
| ENST00000354383.10:c.1416_1417insTGTTG | ENSP00000346354.6:p.Gln473CysfsTer? | |
| ENST00000355498.6:c.1413_1414insTGTTG | ENSP00000347685.2:p.Gln472CysfsTer? | |
| ENST00000372098.7:c.1488_1489insTGTTG | ENSP00000361170.3:p.Gln497CysfsTer? | |
| ENST00000372104.5:c.1413_1414insTGTTG | ENSP00000361176.1:p.Gln472CysfsTer? | |
| ENST00000372110.7:c.1458_1459insTGTTG | ENSP00000361182.3:p.Gln487CysfsTer? | |
| ENST00000372115.7:c.1455_1456insTGTTG | ENSP00000361187.3:p.Gln486CysfsTer? | |
| ENST00000448481.5:c.1446_1447insTGTTG | ENSP00000409718.1:p.Gln483CysfsTer? | |
| ENST00000450313.5:c.1497_1498insTGTTG | ENSP00000408176.1:p.Gln500CysfsTer? | |
| ENST00000456914.6:c.1413_1414insTGTTG | ENSP00000407590.2:p.Gln472CysfsTer? | |
| ENST00000467459.5:c.830_831insTGTTG | ENSP00000435889.1:n.830_831insTGTTG | |
| ENST00000475516.5:c.*1226_*1227insTGTTG | ENSP00000433843.1:n.*1226_*1227insTGTTG | |
| ENST00000481571.5:c.*1226_*1227insTGTTG | ENSP00000436597.1:n.*1226_*1227insTGTTG | |
| ENST00000482094.5:n.734_735insTGTTG | ||
| ENST00000485271.5:c.110_111insTGTTG | ||
| ENST00000488731.6:c.498_499insTGTTG | ENSP00000432330.1:p.Gln167CysfsTer? | |
| ENST00000528013.6:c.1455_1456insTGTTG | ENSP00000433130.2:p.Gln486CysfsTer? | |
| ENST00000529892.5:c.488_489insTGTTG | ||
| ENST00000529984.5:c.498_499insTGTTG | ENSP00000437093.1:p.Gln167CysfsTer? | |
| ENST00000531105.5:c.116-1100_116-1099insTGTTG | ENSP00000431292.1:n.116-1100_116-1099insTGTTG | |
| ENST00000533178.5:c.1042_1043insTGTTG | ENSP00000436430.1:n.1042_1043insTGTTG | |
| NM_001048171.1:c.1455_1456insTGTTG | NP_001041636.1:p.Gln486CysfsTer? | |
| NM_001048172.1:c.1416_1417insTGTTG | NP_001041637.1:p.Gln473CysfsTer? | |
| NM_001048173.1:c.1413_1414insTGTTG | NP_001041638.1:p.Gln472CysfsTer? | |
| NM_001048174.1:c.1413_1414insTGTTG | NP_001041639.1:p.Gln472CysfsTer? | |
| NM_001128425.1:c.1497_1498insTGTTG , LRG_220t1:c.1497_1498insTGTTG | NP_001121897.1:p.Gln500CysfsTer? | |
| NM_001293190.1:c.1458_1459insTGTTG | NP_001280119.1:p.Gln487CysfsTer? | |
| NM_001293191.1:c.1446_1447insTGTTG | NP_001280120.1:p.Gln483CysfsTer? | |
| NM_001293192.1:c.1137_1138insTGTTG | NP_001280121.1:p.Gln380CysfsTer? | |
| NM_001293195.1:c.1413_1414insTGTTG | NP_001280124.1:p.Gln472CysfsTer? | |
| NM_001293196.1:c.1137_1138insTGTTG | NP_001280125.1:p.Gln380CysfsTer? | |
| NM_012222.2:c.1488_1489insTGTTG | NP_036354.1:p.Gln497CysfsTer? | |
| XM_011541497.1:c.1473_1474insTGTTG | XP_011539799.1:p.Gln492CysfsTer? | |
| XM_011541498.1:c.1455_1456insTGTTG | XP_011539800.1:p.Gln486CysfsTer? | |
| XM_011541499.1:c.1455_1456insTGTTG | XP_011539801.1:p.Gln486CysfsTer? | |
| XM_011541500.1:c.1455_1456insTGTTG | XP_011539802.1:p.Gln486CysfsTer? | |
| XM_011541501.1:c.1455_1456insTGTTG | XP_011539803.1:p.Gln486CysfsTer? | |
| XM_011541502.1:c.1455_1456insTGTTG | XP_011539804.1:p.Gln486CysfsTer? | |
| XM_011541503.1:c.1455_1456insTGTTG | XP_011539805.1:p.Gln486CysfsTer? | |
| XM_011541504.1:c.1446_1447insTGTTG | XP_011539806.1:p.Gln483CysfsTer? | |
| XM_011541505.1:c.1035_1036insTGTTG | XP_011539807.1:p.Gln346CysfsTer? | |
| XM_011541506.1:c.1035_1036insTGTTG | XP_011539808.1:p.Gln346CysfsTer? | |
| XM_011541507.1:c.1026_1027insTGTTG | XP_011539809.1:p.Gln343CysfsTer? | |
| XM_011541508.1:c.1041_1042insTGTTG | XP_011539810.1:p.Gln348CysfsTer? | |
| XR_946658.1:n.1544_1545insTGTTG | ||
| NM_001350650.1:c.1068_1069insTGTTG | NP_001337579.1:p.Gln357CysfsTer? | |
| NM_001350651.1:c.1068_1069insTGTTG | NP_001337580.1:p.Gln357CysfsTer? | |
| NR_146882.1:n.1671_1672insTGTTG | ||
| NR_146883.1:n.1485_1486insTGTTG | ||
| XM_011541497.3:c.1473_1474insTGTTG | XP_011539799.1:p.Gln492CysfsTer? | |
| XM_011541500.3:c.1455_1456insTGTTG | XP_011539802.1:p.Gln486CysfsTer? | |
| XM_011541501.2:c.1455_1456insTGTTG | XP_011539803.1:p.Gln486CysfsTer? | |
| XM_011541502.2:c.1455_1456insTGTTG | XP_011539804.1:p.Gln486CysfsTer? | |
| XM_011541503.2:c.1455_1456insTGTTG | XP_011539805.1:p.Gln486CysfsTer? | |
| XM_011541504.2:c.1446_1447insTGTTG | XP_011539806.1:p.Gln483CysfsTer? | |
| XM_011541505.2:c.1035_1036insTGTTG | XP_011539807.1:p.Gln346CysfsTer? | |
| XM_011541506.2:c.1035_1036insTGTTG | XP_011539808.1:p.Gln346CysfsTer? | |
| XM_017001331.1:c.1455_1456insTGTTG | XP_016856820.1:p.Gln486CysfsTer? | |
| XM_017001332.1:c.1455_1456insTGTTG | XP_016856821.1:p.Gln486CysfsTer? | |
| XM_017001333.1:c.1455_1456insTGTTG | XP_016856822.1:p.Gln486CysfsTer? | |
| XM_017001334.1:c.1416_1417insTGTTG | XP_016856823.1:p.Gln473CysfsTer? | |
| XM_017001335.1:c.1137_1138insTGTTG | XP_016856824.1:p.Gln380CysfsTer? | |
| XM_017001336.1:c.1068_1069insTGTTG | XP_016856825.1:p.Gln357CysfsTer? | |
| XM_017001337.1:c.1068_1069insTGTTG | XP_016856826.1:p.Gln357CysfsTer? | |
| XM_024447244.1:c.1068_1069insTGTTG | XP_024303012.1:p.Gln357CysfsTer? | |
| XM_024447245.1:c.1068_1069insTGTTG | XP_024303013.1:p.Gln357CysfsTer? | |
| XM_024447248.1:c.1026_1027insTGTTG | XP_024303016.1:p.Gln343CysfsTer? | |
| XM_024447249.1:c.897_898insTGTTG | XP_024303017.1:p.Gln300CysfsTer? | |
| XM_024447250.1:c.897_898insTGTTG | XP_024303018.1:p.Gln300CysfsTer? | |
| XM_024447251.1:c.897_898insTGTTG | XP_024303019.1:p.Gln300CysfsTer? | |
| XR_001737190.1:n.1458_1459insTGTTG | ||
| XR_001737192.1:n.1270_1271insTGTTG | ||
| XR_002956643.1:n.1450_1451insTGTTG | ||
| XR_002956644.1:n.1985_1986insTGTTG | ||
| XR_946658.2:n.1558_1559insTGTTG | ||
| NM_001048171.2:c.1413_1414insTGTTG | NP_001041636.2:p.Gln472CysfsTer? | |
| NM_001128425.2:c.1497_1498insTGTTG MANE Plus Clinical | NP_001121897.1:p.Gln500CysfsTer? | |
| NM_001048172.2:c.1416_1417insTGTTG | NP_001041637.1:p.Gln473CysfsTer? | |
| NM_001048173.2:c.1413_1414insTGTTG | NP_001041638.1:p.Gln472CysfsTer? | |
| NM_001048174.2:c.1413_1414insTGTTG MANE Select | NP_001041639.1:p.Gln472CysfsTer? | |
| NM_001293190.2:c.1458_1459insTGTTG | NP_001280119.1:p.Gln487CysfsTer? | |
| NM_001293191.2:c.1446_1447insTGTTG | NP_001280120.1:p.Gln483CysfsTer? | |
| NM_001293192.2:c.1137_1138insTGTTG | NP_001280121.1:p.Gln380CysfsTer? | |
| NM_001293195.2:c.1413_1414insTGTTG | NP_001280124.1:p.Gln472CysfsTer? | |
| NM_001293196.2:c.1137_1138insTGTTG | NP_001280125.1:p.Gln380CysfsTer? | |
| NM_001350650.2:c.1068_1069insTGTTG | NP_001337579.1:p.Gln357CysfsTer? | |
| NM_001350651.2:c.1068_1069insTGTTG | NP_001337580.1:p.Gln357CysfsTer? | |
| NM_012222.3:c.1488_1489insTGTTG | NP_036354.1:p.Gln497CysfsTer? | |
| NR_146882.2:n.1641_1642insTGTTG | ||
| NR_146883.2:n.1490_1491insTGTTG |