Linked Data
dbSNP Id:
rs2146776673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928893_43928900del , CM000684.2:g.43928893_43928900del | GRCh38 |
| NC_000022.10:g.44324773_44324780del , CM000684.1:g.44324773_44324780del | GRCh37 |
| NC_000022.9:g.42656106_42656113del | NCBI36 |
| NG_008631.1:g.10155_10162del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.486+4_486+11del MANE Select | ENSP00000216180.3:n.486+4_486+11del | |
| ENST00000216180.7:c.486+4_486+11del | ENSP00000216180.3:n.486+4_486+11del | |
| ENST00000406117.6:c.*118+4_*118+11del | ENSP00000384668.2:n.*118+4_*118+11del | |
| ENST00000423180.2:c.474+4_474+11del | ENSP00000397987.2:n.474+4_474+11del | |
| ENST00000478713.1:n.520+4_520+11del | ||
| NM_025225.2:c.486+4_486+11del | NP_079501.2:n.486+4_486+11del | |
| NM_025225.3:c.486+4_486+11del MANE Select | NP_079501.2:n.486+4_486+11del |