Linked Data
dbSNP Id:
rs1364951724
gnomAD v2:
1-150776694-CCCAACAGGAA-C
gnomAD v4:
1-150804218-CCCAACAGGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150804222_150804231del , CM000663.2:g.150804222_150804231del | GRCh38 |
| NC_000001.10:g.150776698_150776707del , CM000663.1:g.150776698_150776707del | GRCh37 |
| NC_000001.9:g.149043322_149043331del | NCBI36 |
| NG_011848.1:g.9109_9118del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.411_420del MANE Select | ENSP00000271651.3:p.Ser138LeufsTer20 | |
| ENST00000443913.2:c.588_597del | ENSP00000405083.2:p.Ser197LeufsTer20 | |
| ENST00000480670.2:n.3480_3489del | ||
| ENST00000676680.1:c.411_420del | ENSP00000503270.1:p.Ser138LeufsTer20 | |
| ENST00000676716.1:c.288_297del | ENSP00000504737.1:p.Ser97LeufsTer20 | |
| ENST00000676751.1:c.411_420del | ENSP00000502964.1:p.Ser138LeufsTer20 | |
| ENST00000676824.1:c.411_420del | ENSP00000504176.1:p.Ser138LeufsTer20 | |
| ENST00000676966.1:c.411_420del | ENSP00000503723.1:p.Ser138LeufsTer20 | |
| ENST00000676970.1:c.411_420del | ENSP00000503832.1:p.Ser138LeufsTer20 | |
| ENST00000677330.1:n.2237_2246del | ||
| ENST00000677611.1:n.263_272del | ||
| ENST00000677887.1:c.453_462del | ENSP00000503876.1:p.Ser152LeufsTer20 | |
| ENST00000678275.1:c.*303_*312del | ENSP00000504796.1:n.*303_*312del | |
| ENST00000678337.1:c.447_456del | ENSP00000504759.1:p.Ser150LeufsTer20 | |
| ENST00000678725.1:n.1388_1397del | ||
| ENST00000679090.1:n.996_1005del | ||
| ENST00000679148.1:n.3373_3382del | ||
| ENST00000679171.1:n.2772_2781del | ||
| ENST00000679260.1:c.399+1633_399+1642del | ENSP00000504534.1:n.399+1633_399+1642del | |
| ENST00000271651.7:c.411_420del | ENSP00000271651.3:p.Ser138LeufsTer20 | |
| ENST00000443913.1:c.588_597del | ENSP00000405083.1:p.Ser197LeufsTer20 | |
| ENST00000480670.1:n.251_260del | ||
| NM_000396.3:c.411_420del | NP_000387.1:p.Ser138LeufsTer20 | |
| NM_000396.4:c.411_420del MANE Select | NP_000387.1:p.Ser138LeufsTer20 |