Linked Data
dbSNP Id:
rs754478872
ExAC:
3:128199917 GAGGA / G
gnomAD v2:
3-128199917-GAGGA-G
gnomAD v4:
3-128481074-GAGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128481075_128481078del , CM000665.2:g.128481075_128481078del | GRCh38 |
| NC_000003.11:g.128199918_128199921del , CM000665.1:g.128199918_128199921del | GRCh37 |
| NC_000003.10:g.129682608_129682611del | NCBI36 |
| NG_029334.1:g.17110_17113del , LRG_295:g.17110_17113del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1384_1387del MANE Plus Clinical | ENSP00000417074.1:p.Ser462ProfsTer14 | |
| ENST00000696466.1:c.1666_1669del | ENSP00000512647.1:p.Ser556ProfsTer14 | |
| ENST00000696672.1:c.359_362del | ENSP00000512796.1:p.Leu120ProfsTer19 | |
| ENST00000341105.7:c.1384_1387del MANE Select | ENSP00000345681.2:p.Ser462ProfsTer14 | |
| ENST00000341105.6:c.1384_1387del | ENSP00000345681.2:p.Ser462ProfsTer14 | |
| ENST00000430265.6:c.1342_1345del | ENSP00000400259.2:p.Ser448ProfsTer14 | |
| ENST00000487848.5:c.1384_1387del | ENSP00000417074.1:p.Ser462ProfsTer14 | |
| ENST00000489987.1:n.501_504del | ||
| NM_001145661.1:c.1384_1387del , LRG_295t1:c.1384_1387del | NP_001139133.1:p.Ser462ProfsTer14 | |
| NM_001145662.1:c.1342_1345del | NP_001139134.1:p.Ser448ProfsTer14 | |
| NM_032638.4:c.1384_1387del , LRG_295t2:c.1384_1387del | NP_116027.2:p.Ser462ProfsTer14 | |
| NM_001145661.2:c.1384_1387del MANE Plus Clinical | NP_001139133.1:p.Ser462ProfsTer14 | |
| NM_032638.5:c.1384_1387del MANE Select | NP_116027.2:p.Ser462ProfsTer14 |