Linked Data
dbSNP Id:
rs1914430687
gnomAD v3:
16-89154016-A-ACTGCTGGGCGCCTGAGTTCCTC
gnomAD v4:
16-89154016-A-ACTGCTGGGCGCCTGAGTTCCTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154026_89154047dup , CM000678.2:g.89154026_89154047dup | GRCh38 |
| NC_000016.9:g.89220434_89220455dup , CM000678.1:g.89220434_89220455dup | GRCh37 |
| NC_000016.8:g.87747935_87747956dup | NCBI36 |
| NG_031961.1:g.65218_65239dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1614-64_1614-43dup | ENSP00000320646.4:n.1614-64_1614-43dup | |
| ENST00000614302.5:c.1614-64_1614-43dup MANE Select | ENSP00000479130.1:n.1614-64_1614-43dup | |
| ENST00000649953.1:c.1824-64_1824-43dup | ENSP00000497456.1:n.1824-64_1824-43dup | |
| ENST00000317447.8:c.1614-64_1614-43dup | ENSP00000320646.4:n.1614-64_1614-43dup | |
| ENST00000378345.8:c.819-64_819-43dup | ENSP00000367596.4:n.819-64_819-43dup | |
| ENST00000393145.5:n.6460_6481dup | ||
| ENST00000406948.7:c.1614-64_1614-43dup | ENSP00000384627.3:n.1614-64_1614-43dup | |
| ENST00000537116.5:n.740-64_740-43dup | ||
| ENST00000537155.1:n.354-64_354-43dup | ||
| ENST00000542688.5:c.*358-64_*358-43dup | ENSP00000446281.1:n.*358-64_*358-43dup | |
| ENST00000614302.4:c.1614-64_1614-43dup | ENSP00000479130.1:n.1614-64_1614-43dup | |
| NM_001127214.3:c.1614-64_1614-43dup | NP_001120686.1:n.1614-64_1614-43dup | |
| NM_001243279.2:c.1614-64_1614-43dup | NP_001230208.1:n.1614-64_1614-43dup | |
| NM_001284316.1:c.819-64_819-43dup | NP_001271245.1:n.819-64_819-43dup | |
| NM_174917.4:c.1614-64_1614-43dup | NP_777577.2:n.1614-64_1614-43dup | |
| NR_045667.2:n.740-64_740-43dup | ||
| NR_104293.1:n.2048-64_2048-43dup | ||
| XR_933239.1:n.2055-64_2055-43dup | ||
| XR_933240.1:n.2052-64_2052-43dup | ||
| XR_933241.1:n.1809-64_1809-43dup | ||
| NR_147928.1:n.2092-64_2092-43dup | ||
| NR_147929.1:n.1846-64_1846-43dup | ||
| XM_017023020.2:c.-3491-64_-3491-43dup | XP_016878509.1:n.-3491-64_-3491-43dup | |
| XM_024450187.1:c.819-64_819-43dup | XP_024305955.1:n.819-64_819-43dup | |
| XR_001751864.2:n.1861-64_1861-43dup | ||
| XR_933240.3:n.2051-64_2051-43dup | ||
| NM_001127214.4:c.1614-64_1614-43dup | NP_001120686.1:n.1614-64_1614-43dup | |
| NM_001243279.3:c.1614-64_1614-43dup MANE Select | NP_001230208.1:n.1614-64_1614-43dup | |
| NM_001284316.2:c.819-64_819-43dup | NP_001271245.1:n.819-64_819-43dup | |
| NM_174917.5:c.1614-64_1614-43dup | NP_777577.2:n.1614-64_1614-43dup | |
| NR_104293.2:n.2005-64_2005-43dup | ||
| NR_147928.2:n.2049-64_2049-43dup | ||
| NR_147929.2:n.1803-64_1803-43dup |