Linked Data
dbSNP Id:
rs1570369506
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535708_1535709insGGGGCTGCTGC , CM000663.2:g.1535708_1535709insGGGGCTGCTGC | GRCh38 |
| NC_000001.10:g.1471088_1471089insGGGGCTGCTGC , CM000663.1:g.1471088_1471089insGGGGCTGCTGC | GRCh37 |
| NC_000001.9:g.1460951_1460952insGGGGCTGCTGC | NCBI36 |
| NG_041807.1:g.9652_9653insGCAGCAGCCCC | |
| NG_053035.1:g.28566_28567insGGGGCTGCTGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.253_254insGCAGCAGCCCC MANE Select | ENSP00000368007.4:p.Lys85SerfsTer? | |
| ENST00000378733.8:c.253_254insGCAGCAGCCCC | ENSP00000368007.4:p.Lys85SerfsTer? | |
| ENST00000425828.1:c.253_254insGCAGCAGCCCC | ENSP00000400311.1:p.Lys85SerfsTer? | |
| NM_001114748.1:c.253_254insGCAGCAGCCCC | NP_001108220.1:p.Lys85SerfsTer? | |
| NM_001114748.2:c.253_254insGCAGCAGCCCC MANE Select | NP_001108220.1:p.Lys85SerfsTer? |