Linked Data
ClinVar Variation Id:
13297
ClinVar RCV Id:
RCV000014223
dbSNP Id:
rs879253720
PubMed:
PMID:16501574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.121488028_121488030del , CM000672.2:g.121488028_121488030del | GRCh38 |
| NC_000010.10:g.123247542_123247544del , CM000672.1:g.123247542_123247544del | GRCh37 |
| NC_000010.9:g.123237532_123237534del | NCBI36 |
| NG_012449.1:g.115429_115431del | |
| NG_012449.2:g.115429_115431del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000457416.7:c.1950_1952del MANE Plus Clinical | ENSP00000410294.2:p.Arg650_Asp651delinsSer | |
| ENST00000351936.11:c.1941_1943del | ENSP00000309878.10:p.Arg647_Asp648delinsSer | |
| ENST00000638709.2:c.771_773del | ENSP00000491912.2:p.Arg257_Asp258delinsSer | |
| ENST00000682296.1:n.1289_1291del | ||
| ENST00000682550.1:c.1596_1598del | ENSP00000507633.1:p.Arg532_Asp533delinsSer | |
| ENST00000682772.1:c.771_773del | ENSP00000506848.1:p.Arg257_Asp258delinsSer | |
| ENST00000682904.1:n.767_769del | ||
| ENST00000683029.1:n.359_361del | ||
| ENST00000683211.1:c.1941_1943del | ENSP00000508257.1:p.Arg647_Asp648delinsSer | |
| ENST00000683250.1:c.*649_*651del | ENSP00000506847.1:n.*649_*651del | |
| ENST00000683418.1:n.4288_4290del | ||
| ENST00000684153.1:c.1596_1598del | ENSP00000506937.1:p.Arg532_Asp533delinsSer | |
| ENST00000684516.1:n.2960_2962del | ||
| ENST00000358487.10:c.1947_1949del MANE Select | ENSP00000351276.6:p.Arg649_Asp650delinsSer | |
| ENST00000336553.10:c.1674_1676del | ENSP00000337665.6:p.Arg558_Asp559delinsSer | |
| ENST00000346997.6:c.1941_1943del | ENSP00000263451.5:p.Arg647_Asp648delinsSer | |
| ENST00000351936.10:c.1947_1949del | ENSP00000309878.9:p.Arg649_Asp650delinsSer | |
| ENST00000356226.8:c.1596_1598del | ENSP00000348559.4:p.Arg532_Asp533delinsSer | |
| ENST00000357555.9:c.1680_1682del | ENSP00000350166.5:p.Arg560_Asp561delinsSer | |
| ENST00000358487.9:c.1947_1949del | ENSP00000351276.5:p.Arg649_Asp650delinsSer | |
| ENST00000360144.7:c.1683_1685del | ENSP00000353262.3:p.Arg561_Asp562delinsSer | |
| ENST00000369056.5:c.1950_1952del | ENSP00000358052.1:p.Arg650_Asp651delinsSer | |
| ENST00000369058.7:c.1950_1952del | ENSP00000358054.3:p.Arg650_Asp651delinsSer | |
| ENST00000369059.5:c.1605_1607del | ENSP00000358055.1:p.Arg535_Asp536delinsSer | |
| ENST00000369060.8:c.1599_1601del | ENSP00000358056.4:p.Arg533_Asp534delinsSer | |
| ENST00000369061.8:c.1611_1613del | ENSP00000358057.4:p.Arg537_Asp538delinsSer | |
| ENST00000429361.5:c.723_725del | ENSP00000404219.1:p.Arg241_Asp242delinsSer | |
| ENST00000457416.6:c.1950_1952del | ENSP00000410294.2:p.Arg650_Asp651delinsSer | |
| ENST00000478859.5:c.1263_1265del | ENSP00000474011.1:p.Arg421_Asp422delinsSer | |
| ENST00000604236.5:c.*994_*996del | ENSP00000474109.1:n.*994_*996del | |
| ENST00000613048.4:c.1680_1682del | ENSP00000484154.1:p.Arg560_Asp561delinsSer | |
| NM_000141.4:c.1947_1949del | NP_000132.3:p.Arg649_Asp650delinsSer | |
| NM_001144913.1:c.1950_1952del | NP_001138385.1:p.Arg650_Asp651delinsSer | |
| NM_001144914.1:c.1611_1613del | NP_001138386.1:p.Arg537_Asp538delinsSer | |
| NM_001144915.1:c.1680_1682del | NP_001138387.1:p.Arg560_Asp561delinsSer | |
| NM_001144916.1:c.1602_1604del | NP_001138388.1:p.Arg534_Asp535delinsSer | |
| NM_001144917.1:c.1599_1601del | NP_001138389.1:p.Arg533_Asp534delinsSer | |
| NM_001144918.1:c.1596_1598del | NP_001138390.1:p.Arg532_Asp533delinsSer | |
| NM_001144919.1:c.1683_1685del | NP_001138391.1:p.Arg561_Asp562delinsSer | |
| NM_022970.3:c.1950_1952del | NP_075259.4:p.Arg650_Asp651delinsSer | |
| NM_023029.2:c.1680_1682del | NP_075418.1:p.Arg560_Asp561delinsSer | |
| NR_073009.1:n.2397_2399del | ||
| XM_006717708.2:c.2001_2003del | XP_006717771.1:p.Arg667_Asp668delinsSer | |
| XM_006717709.2:c.1998_2000del | XP_006717772.1:p.Arg666_Asp667delinsSer | |
| XM_006717710.2:c.2007_2009del | XP_006717773.1:p.Arg669_Asp670delinsSer | |
| XM_006717711.2:c.1740_1742del | XP_006717774.1:p.Arg580_Asp581delinsSer | |
| XM_006717712.2:c.1662_1664del | XP_006717775.1:p.Arg554_Asp555delinsSer | |
| XM_006717713.2:c.2004_2006del | XP_006717776.1:p.Arg668_Asp669delinsSer | |
| XM_011539510.1:c.1263_1265del | XP_011537812.1:p.Arg421_Asp422delinsSer | |
| NM_001320654.1:c.1263_1265del | NP_001307583.1:p.Arg421_Asp422delinsSer | |
| NM_001320658.1:c.1941_1943del | NP_001307587.1:p.Arg647_Asp648delinsSer | |
| XM_006717708.3:c.2001_2003del | XP_006717771.1:p.Arg667_Asp668delinsSer | |
| XM_006717710.4:c.2007_2009del | XP_006717773.1:p.Arg669_Asp670delinsSer | |
| XM_017015920.2:c.2001_2003del | XP_016871409.1:p.Arg667_Asp668delinsSer | |
| XM_017015921.2:c.1998_2000del | XP_016871410.1:p.Arg666_Asp667delinsSer | |
| XM_017015924.2:c.1659_1661del | XP_016871413.1:p.Arg553_Asp554delinsSer | |
| XM_017015925.2:c.1653_1655del | XP_016871414.1:p.Arg551_Asp552delinsSer | |
| XM_024447887.1:c.1737_1739del | XP_024303655.1:p.Arg579_Asp580delinsSer | |
| XM_024447888.1:c.1734_1736del | XP_024303656.1:p.Arg578_Asp579delinsSer | |
| XM_024447889.1:c.1731_1733del | XP_024303657.1:p.Arg577_Asp578delinsSer | |
| XM_024447890.1:c.1740_1742del | XP_024303658.1:p.Arg580_Asp581delinsSer | |
| XM_024447891.1:c.1662_1664del | XP_024303659.1:p.Arg554_Asp555delinsSer | |
| XM_024447892.1:c.777_779del | XP_024303660.1:p.Arg259_Asp260delinsSer | |
| NM_000141.5:c.1947_1949del MANE Select | NP_000132.3:p.Arg649_Asp650delinsSer | |
| NM_001144917.2:c.1599_1601del | NP_001138389.1:p.Arg533_Asp534delinsSer | |
| NM_001144918.2:c.1596_1598del | NP_001138390.1:p.Arg532_Asp533delinsSer | |
| NM_001144919.2:c.1683_1685del | NP_001138391.1:p.Arg561_Asp562delinsSer | |
| NM_001320658.2:c.1941_1943del | NP_001307587.1:p.Arg647_Asp648delinsSer | |
| NR_073009.2:n.2383_2385del | ||
| NM_001144915.2:c.1680_1682del | NP_001138387.1:p.Arg560_Asp561delinsSer | |
| NM_001144916.2:c.1602_1604del | NP_001138388.1:p.Arg534_Asp535delinsSer | |
| NM_001320654.2:c.1263_1265del | NP_001307583.1:p.Arg421_Asp422delinsSer |