Linked Data
dbSNP Id:
rs1841650019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128945769_128945791del , CM000671.2:g.128945769_128945791del | GRCh38 |
| NC_000009.11:g.131708048_131708070del , CM000671.1:g.131708048_131708070del | GRCh37 |
| NC_000009.10:g.130747869_130747891del | NCBI36 |
| NG_017009.1:g.6945_6967del , LRG_744:g.6945_6967del | |
| NG_033111.1:g.3077_3099del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1515_1537del MANE Select | ENSP00000361667.3:p.Trp505CysfsTer? | |
| ENST00000372586.3:c.1515_1537del | ENSP00000361667.3:p.Trp505CysfsTer? | |
| ENST00000482796.1:c.39-3420_39-3398del | ENSP00000417556.2:n.39-3420_39-3398del | |
| NM_014908.3:c.1515_1537del , LRG_744t1:c.1515_1537del | NP_055723.1:p.Trp505CysfsTer? | |
| NM_014908.4:c.1515_1537del MANE Select | NP_055723.1:p.Trp505CysfsTer? |