Linked Data
gnomAD v4:
21-45990567-CGGGGAGGGAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990572_45990581del , CM000683.2:g.45990572_45990581del | GRCh38 |
| NC_000021.8:g.47410486_47410495del , CM000683.1:g.47410486_47410495del | GRCh37 |
| NC_000021.7:g.46234914_46234923del | NCBI36 |
| NG_008674.1:g.13824_13833del , LRG_475:g.13824_13833del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+150_1002+159del MANE Select | ENSP00000355180.3:n.1002+150_1002+159del | |
| ENST00000361866.7:c.1002+150_1002+159del | ENSP00000355180.3:n.1002+150_1002+159del | |
| ENST00000612273.1:c.1002+150_1002+159del | ENSP00000483630.1:n.1002+150_1002+159del | |
| NM_001848.2:c.1002+150_1002+159del , LRG_475t1:c.1002+150_1002+159del | NP_001839.2:n.1002+150_1002+159del | |
| NM_001848.3:c.1002+150_1002+159del MANE Select | NP_001839.2:n.1002+150_1002+159del |