Linked Data
dbSNP Id:
rs1569134110
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456662_44456663del , CM000683.2:g.44456662_44456663del | GRCh38 |
| NC_000021.8:g.45876545_45876546del , CM000683.1:g.45876545_45876546del | GRCh37 |
| NC_000021.7:g.44700973_44700974del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.18_19del MANE Select | ENSP00000291592.4:p.Pro7SerfsTer? | |
| ENST00000291592.5:c.18_19del | ENSP00000291592.4:p.Pro7SerfsTer? | |
| NM_030891.4:c.18_19del | NP_112153.1:p.Pro7SerfsTer? | |
| NM_030891.5:c.18_19del | NP_112153.1:p.Pro7SerfsTer? | |
| NM_030891.6:c.18_19del MANE Select | NP_112153.1:p.Pro7SerfsTer? |