Linked Data
gnomAD v4:
13-99970405-G-GTTGAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99970405_99970406insTTGAGC , CM000675.2:g.99970405_99970406insTTGAGC | GRCh38 |
| NC_000013.10:g.100622659_100622660insTTGAGC , CM000675.1:g.100622659_100622660insTTGAGC | GRCh37 |
| NC_000013.9:g.99420660_99420661insTTGAGC | NCBI36 |
| NG_053065.1:g.6519_6520insGCTCAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267294.5:c.1198_1199insGCTCAA MANE Select | ENSP00000267294.4:p.Pro400delinsArgSerThr | |
| ENST00000267294.4:c.1270_1271insGCTCAA | ENSP00000267294.3:p.Pro424delinsArgSerThr | |
| NM_033132.3:c.1270_1271insGCTCAA | NP_149123.2:p.Pro424delinsArgSerThr | |
| NM_033132.4:c.1270_1271insGCTCAA | NP_149123.2:p.Pro424delinsArgSerThr | |
| NR_146224.1:n.1504_1505insGCTCAA | ||
| NM_033132.5:c.1198_1199insGCTCAA MANE Select | NP_149123.3:p.Pro400delinsArgSerThr |