Linked Data
ClinVar Variation Id:
376266
ClinVar RCV Id:
RCV000424812
dbSNP Id:
rs1057519845
PubMed:
PMID:25157968
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839990_112839994del , CM000667.2:g.112839990_112839994del | GRCh38 |
| NC_000005.9:g.112175687_112175691del , CM000667.1:g.112175687_112175691del | GRCh37 |
| NC_000005.8:g.112203586_112203590del | NCBI36 |
| NG_008481.4:g.152470_152474del , LRG_130:g.152470_152474del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.4450_4454del | ENSP00000473355.2:p.Gly1484Ter | |
| ENST00000505350.2:c.*4402_*4406del | ENSP00000481752.1:n.*4402_*4406del | |
| ENST00000507379.6:c.4342_4346del | ENSP00000423224.2:p.Gly1448Ter | |
| ENST00000509732.6:c.4396_4400del | ENSP00000426541.2:p.Gly1466Ter | |
| ENST00000512211.7:c.4396_4400del | ENSP00000423828.3:p.Gly1466Ter | |
| ENST00000257430.9:c.4396_4400del MANE Select | ENSP00000257430.4:p.Gly1466Ter | |
| ENST00000257430.8:c.4396_4400del | ENSP00000257430.4:p.Gly1466Ter | |
| ENST00000508376.6:c.4396_4400del | ENSP00000427089.2:p.Gly1466Ter | |
| ENST00000508624.5:c.*3718_*3722del | ENSP00000424265.1:n.*3718_*3722del | |
| ENST00000520401.1:c.230+11018_230+11022del | ||
| NM_000038.5:c.4396_4400del | NP_000029.2:p.Gly1466Ter | |
| NM_001127510.2:c.4396_4400del | NP_001120982.1:p.Gly1466Ter | |
| NM_001127511.2:c.4342_4346del | NP_001120983.2:p.Gly1448Ter | |
| NM_001354895.1:c.4396_4400del | NP_001341824.1:p.Gly1466Ter | |
| NM_001354896.1:c.4450_4454del | NP_001341825.1:p.Gly1484Ter | |
| NM_001354897.1:c.4426_4430del | NP_001341826.1:p.Gly1476Ter | |
| NM_001354898.1:c.4321_4325del | NP_001341827.1:p.Gly1441Ter | |
| NM_001354899.1:c.4312_4316del | NP_001341828.1:p.Gly1438Ter | |
| NM_001354900.1:c.4273_4277del | NP_001341829.1:p.Gly1425Ter | |
| NM_001354901.1:c.4219_4223del | NP_001341830.1:p.Gly1407Ter | |
| NM_001354902.1:c.4123_4127del | NP_001341831.1:p.Gly1375Ter | |
| NM_001354903.1:c.4093_4097del | NP_001341832.1:p.Gly1365Ter | |
| NM_001354904.1:c.4018_4022del | NP_001341833.1:p.Gly1340Ter | |
| NM_001354905.1:c.3916_3920del | NP_001341834.1:p.Gly1306Ter | |
| NM_001354906.1:c.3547_3551del | NP_001341835.1:p.Gly1183Ter | |
| NM_000038.6:c.4396_4400del MANE Select | NP_000029.2:p.Gly1466Ter | |
| NM_001127510.3:c.4396_4400del | NP_001120982.1:p.Gly1466Ter | |
| NM_001127511.3:c.4342_4346del | NP_001120983.2:p.Gly1448Ter | |
| NM_001354895.2:c.4396_4400del | NP_001341824.1:p.Gly1466Ter | |
| NM_001354896.2:c.4450_4454del | NP_001341825.1:p.Gly1484Ter | |
| NM_001354897.2:c.4426_4430del | NP_001341826.1:p.Gly1476Ter | |
| NM_001354898.2:c.4321_4325del | NP_001341827.1:p.Gly1441Ter | |
| NM_001354899.2:c.4312_4316del | NP_001341828.1:p.Gly1438Ter | |
| NM_001354900.2:c.4273_4277del | NP_001341829.1:p.Gly1425Ter | |
| NM_001354901.2:c.4219_4223del | NP_001341830.1:p.Gly1407Ter | |
| NM_001354902.2:c.4123_4127del | NP_001341831.1:p.Gly1375Ter | |
| NM_001354903.2:c.4093_4097del | NP_001341832.1:p.Gly1365Ter | |
| NM_001354904.2:c.4018_4022del | NP_001341833.1:p.Gly1340Ter | |
| NM_001354905.2:c.3916_3920del | NP_001341834.1:p.Gly1306Ter | |
| NM_001354906.2:c.3547_3551del | NP_001341835.1:p.Gly1183Ter |