Linked Data
dbSNP Id:
rs1661145474
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215766840_215766846del , CM000663.2:g.215766840_215766846del | GRCh38 |
| NC_000001.10:g.215940182_215940188del , CM000663.1:g.215940182_215940188del | GRCh37 |
| NC_000001.9:g.214006805_214006811del | NCBI36 |
| NG_009497.1:g.661555_661561del | |
| NG_009497.2:g.661607_661613del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.10940-54_10940-48del MANE Select | ENSP00000305941.3:n.10940-54_10940-48del | |
| ENST00000674083.1:c.10940-54_10940-48del | ENSP00000501296.1:n.10940-54_10940-48del | |
| ENST00000307340.7:c.10940-54_10940-48del | ENSP00000305941.3:n.10940-54_10940-48del | |
| NM_206933.2:c.10940-54_10940-48del | NP_996816.2:n.10940-54_10940-48del | |
| NM_206933.3:c.10940-54_10940-48del | NP_996816.2:n.10940-54_10940-48del | |
| NM_206933.4:c.10940-54_10940-48del MANE Select | NP_996816.3:n.10940-54_10940-48del |