Linked Data
gnomAD v4:
21-45990487-CGGAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990488_45990491del , CM000683.2:g.45990488_45990491del | GRCh38 |
| NC_000021.8:g.47410402_47410405del , CM000683.1:g.47410402_47410405del | GRCh37 |
| NC_000021.7:g.46234830_46234833del | NCBI36 |
| NG_008674.1:g.13740_13743del , LRG_475:g.13740_13743del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+66_1002+69del MANE Select | ENSP00000355180.3:n.1002+66_1002+69del | |
| ENST00000361866.7:c.1002+66_1002+69del | ENSP00000355180.3:n.1002+66_1002+69del | |
| ENST00000612273.1:c.1002+66_1002+69del | ENSP00000483630.1:n.1002+66_1002+69del | |
| NM_001848.2:c.1002+66_1002+69del , LRG_475t1:c.1002+66_1002+69del | NP_001839.2:n.1002+66_1002+69del | |
| NM_001848.3:c.1002+66_1002+69del MANE Select | NP_001839.2:n.1002+66_1002+69del |