Linked Data
dbSNP Id:
rs1914403584
gnomAD v3:
16-89153788-CCTGCAGGCCACTCT-C
gnomAD v4:
16-89153788-CCTGCAGGCCACTCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89153789_89153802del , CM000678.2:g.89153789_89153802del | GRCh38 |
| NC_000016.9:g.89220197_89220210del , CM000678.1:g.89220197_89220210del | GRCh37 |
| NC_000016.8:g.87747698_87747711del | NCBI36 |
| NG_031961.1:g.64981_64994del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1614-301_1614-288del | ENSP00000320646.4:n.1614-301_1614-288del | |
| ENST00000614302.5:c.1614-301_1614-288del MANE Select | ENSP00000479130.1:n.1614-301_1614-288del | |
| ENST00000649953.1:c.1824-301_1824-288del | ENSP00000497456.1:n.1824-301_1824-288del | |
| ENST00000317447.8:c.1614-301_1614-288del | ENSP00000320646.4:n.1614-301_1614-288del | |
| ENST00000378345.8:c.819-301_819-288del | ENSP00000367596.4:n.819-301_819-288del | |
| ENST00000393145.5:n.6223_6236del | ||
| ENST00000406948.7:c.1614-301_1614-288del | ENSP00000384627.3:n.1614-301_1614-288del | |
| ENST00000537116.5:n.740-301_740-288del | ||
| ENST00000537155.1:n.354-301_354-288del | ||
| ENST00000542688.5:c.*358-301_*358-288del | ENSP00000446281.1:n.*358-301_*358-288del | |
| ENST00000614302.4:c.1614-301_1614-288del | ENSP00000479130.1:n.1614-301_1614-288del | |
| NM_001127214.3:c.1614-301_1614-288del | NP_001120686.1:n.1614-301_1614-288del | |
| NM_001243279.2:c.1614-301_1614-288del | NP_001230208.1:n.1614-301_1614-288del | |
| NM_001284316.1:c.819-301_819-288del | NP_001271245.1:n.819-301_819-288del | |
| NM_174917.4:c.1614-301_1614-288del | NP_777577.2:n.1614-301_1614-288del | |
| NR_045667.2:n.740-301_740-288del | ||
| NR_104293.1:n.2048-301_2048-288del | ||
| XR_933239.1:n.2055-301_2055-288del | ||
| XR_933240.1:n.2052-301_2052-288del | ||
| XR_933241.1:n.1809-301_1809-288del | ||
| NR_147928.1:n.2092-301_2092-288del | ||
| NR_147929.1:n.1846-301_1846-288del | ||
| XM_017023020.2:c.-3491-301_-3491-288del | XP_016878509.1:n.-3491-301_-3491-288del | |
| XM_024450187.1:c.819-301_819-288del | XP_024305955.1:n.819-301_819-288del | |
| XR_001751864.2:n.1861-301_1861-288del | ||
| XR_933240.3:n.2051-301_2051-288del | ||
| NM_001127214.4:c.1614-301_1614-288del | NP_001120686.1:n.1614-301_1614-288del | |
| NM_001243279.3:c.1614-301_1614-288del MANE Select | NP_001230208.1:n.1614-301_1614-288del | |
| NM_001284316.2:c.819-301_819-288del | NP_001271245.1:n.819-301_819-288del | |
| NM_174917.5:c.1614-301_1614-288del | NP_777577.2:n.1614-301_1614-288del | |
| NR_104293.2:n.2005-301_2005-288del | ||
| NR_147928.2:n.2049-301_2049-288del | ||
| NR_147929.2:n.1803-301_1803-288del |