Linked Data
gnomAD v4:
21-45990480-G-GCAAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990480_45990481insCAAGC , CM000683.2:g.45990480_45990481insCAAGC | GRCh38 |
| NC_000021.8:g.47410394_47410395insCAAGC , CM000683.1:g.47410394_47410395insCAAGC | GRCh37 |
| NC_000021.7:g.46234822_46234823insCAAGC | NCBI36 |
| NG_008674.1:g.13732_13733insCAAGC , LRG_475:g.13732_13733insCAAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+58_1002+59insCAAGC MANE Select | ENSP00000355180.3:n.1002+58_1002+59insCAAGC | |
| ENST00000361866.7:c.1002+58_1002+59insCAAGC | ENSP00000355180.3:n.1002+58_1002+59insCAAGC | |
| ENST00000612273.1:c.1002+58_1002+59insCAAGC | ENSP00000483630.1:n.1002+58_1002+59insCAAGC | |
| NM_001848.2:c.1002+58_1002+59insCAAGC , LRG_475t1:c.1002+58_1002+59insCAAGC | NP_001839.2:n.1002+58_1002+59insCAAGC | |
| NM_001848.3:c.1002+58_1002+59insCAAGC MANE Select | NP_001839.2:n.1002+58_1002+59insCAAGC |