ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50170241_50170242delinsT , CM000679.2:g.50170241_50170242delinsT | GRCh38 |
| NC_000017.10:g.48247602_48247603delinsT , CM000679.1:g.48247602_48247603delinsT | GRCh37 |
| NC_000017.9:g.45602601_45602602delinsT | NCBI36 |
| NG_008889.1:g.9237_9238delinsT , LRG_203:g.9237_9238delinsT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504073.2:c.696_697delinsT | ENSP00000422030.2:p.Asp233ThrfsTer? | |
| ENST00000511303.6:n.310-399_310-398delinsT | ||
| ENST00000512526.2:c.576-399_576-398delinsT | ENSP00000426606.2:n.576-399_576-398delinsT | |
| ENST00000682109.1:c.726_727delinsT | ENSP00000508041.1:p.Asp243ThrfsTer? | |
| ENST00000683226.1:n.1444_1445delinsT | ||
| ENST00000683294.1:c.*59+53_*59+54delinsT | ENSP00000508134.1:n.*59+53_*59+54delinsT | |
| ENST00000683544.1:n.212_213delinsT | ||
| ENST00000262018.8:c.846_847delinsT MANE Select | ENSP00000262018.3:p.Asp283ThrfsTer? | |
| ENST00000262018.7:c.846_847delinsT | ENSP00000262018.3:p.Asp283ThrfsTer? | |
| ENST00000344627.10:c.585-399_585-398delinsT | ENSP00000345522.6:n.585-399_585-398delinsT | |
| ENST00000504073.1:c.163_164delinsT | ||
| ENST00000511303.5:c.306-399_306-398delinsT | ENSP00000426104.1:n.306-399_306-398delinsT | |
| ENST00000512526.1:c.420-399_420-398delinsT | ||
| ENST00000513821.5:c.748-399_748-398delinsT | ENSP00000426571.1:n.748-399_748-398delinsT | |
| ENST00000513942.5:n.376-399_376-398delinsT | ||
| NM_000023.2:c.846_847delinsT , LRG_203t1:c.846_847delinsT | NP_000014.1:p.Asp283ThrfsTer? | |
| NM_001135697.1:c.585-399_585-398delinsT | NP_001129169.1:n.585-399_585-398delinsT | |
| XM_011525120.1:c.846_847delinsT | XP_011523422.1:p.Asp283ThrfsTer? | |
| XM_011525121.1:c.696_697delinsT | XP_011523423.1:p.Asp233ThrfsTer? | |
| XM_011525122.1:c.748-399_748-398delinsT | XP_011523424.1:n.748-399_748-398delinsT | |
| XM_011525123.1:c.585-399_585-398delinsT | XP_011523425.1:n.585-399_585-398delinsT | |
| XM_011525124.1:c.540_541delinsT | XP_011523426.1:p.Asp181ThrfsTer? | |
| XR_934517.1:n.814-399_814-398delinsT | ||
| NM_000023.3:c.846_847delinsT | NP_000014.1:p.Asp283ThrfsTer? | |
| NM_001135697.2:c.585-399_585-398delinsT | NP_001129169.1:n.585-399_585-398delinsT | |
| NR_135553.1:n.804-399_804-398delinsT | ||
| XM_011525120.2:c.1008_1009delinsT | XP_011523422.2:p.Asp337ThrfsTer? | |
| XM_011525121.2:c.858_859delinsT | XP_011523423.2:p.Asp287ThrfsTer? | |
| XM_011525122.2:c.910-399_910-398delinsT | XP_011523424.2:n.910-399_910-398delinsT | |
| XM_011525123.2:c.747-399_747-398delinsT | XP_011523425.2:n.747-399_747-398delinsT | |
| XM_011525124.2:c.540_541delinsT | XP_011523426.1:p.Asp181ThrfsTer? | |
| XM_024450873.1:c.540_541delinsT | XP_024306641.1:p.Asp181ThrfsTer? | |
| XR_002958056.1:n.1443_1444delinsT | ||
| NM_000023.4:c.846_847delinsT MANE Select | NP_000014.1:p.Asp283ThrfsTer? | |
| NM_001135697.3:c.585-399_585-398delinsT | NP_001129169.1:n.585-399_585-398delinsT | |
| NR_135553.2:n.784-399_784-398delinsT |