Linked Data
dbSNP Id:
rs2077767983
gnomAD v3:
21-45990413-CGGCGTG-C
gnomAD v4:
21-45990413-CGGCGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990414_45990419del , CM000683.2:g.45990414_45990419del | GRCh38 |
| NC_000021.8:g.47410328_47410333del , CM000683.1:g.47410328_47410333del | GRCh37 |
| NC_000021.7:g.46234756_46234761del | NCBI36 |
| NG_008674.1:g.13666_13671del , LRG_475:g.13666_13671del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.994_999del MANE Select | ENSP00000355180.3:p.Gly332_Val333del | |
| ENST00000361866.7:c.994_999del | ENSP00000355180.3:p.Gly332_Val333del | |
| ENST00000612273.1:c.994_999del | ENSP00000483630.1:p.Gly332_Val333del | |
| NM_001848.2:c.994_999del , LRG_475t1:c.994_999del | NP_001839.2:p.Gly332_Val333del | |
| NM_001848.3:c.994_999del MANE Select | NP_001839.2:p.Gly332_Val333del |