Linked Data
dbSNP Id:
rs1679774121
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135851190_135851191del , CM000664.2:g.135851190_135851191del | GRCh38 |
| NC_000002.11:g.136608760_136608761del , CM000664.1:g.136608760_136608761del | GRCh37 |
| NC_000002.10:g.136325230_136325231del | NCBI36 |
| NG_008104.2:g.8981_8982del , LRG_338:g.8981_8982del | |
| NG_008958.1:g.30253_30254del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264156.3:c.1917+213_1917+214del MANE Select | ENSP00000264156.2:n.1917+213_1917+214del | |
| ENST00000264156.2:c.1917+213_1917+214del | ENSP00000264156.2:n.1917+213_1917+214del | |
| ENST00000483902.1:n.544+213_544+214del | ||
| ENST00000492091.1:n.343+213_343+214del | ||
| NM_005915.5:c.1917+213_1917+214del | NP_005906.2:n.1917+213_1917+214del | |
| NM_005915.6:c.1917+213_1917+214del MANE Select | NP_005906.2:n.1917+213_1917+214del |