Linked Data
gnomAD v4:
21-45990478-G-GACCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990478_45990479insACCCC , CM000683.2:g.45990478_45990479insACCCC | GRCh38 |
| NC_000021.8:g.47410392_47410393insACCCC , CM000683.1:g.47410392_47410393insACCCC | GRCh37 |
| NC_000021.7:g.46234820_46234821insACCCC | NCBI36 |
| NG_008674.1:g.13730_13731insACCCC , LRG_475:g.13730_13731insACCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+56_1002+57insACCCC MANE Select | ENSP00000355180.3:n.1002+56_1002+57insACCCC | |
| ENST00000361866.7:c.1002+56_1002+57insACCCC | ENSP00000355180.3:n.1002+56_1002+57insACCCC | |
| ENST00000612273.1:c.1002+56_1002+57insACCCC | ENSP00000483630.1:n.1002+56_1002+57insACCCC | |
| NM_001848.2:c.1002+56_1002+57insACCCC , LRG_475t1:c.1002+56_1002+57insACCCC | NP_001839.2:n.1002+56_1002+57insACCCC | |
| NM_001848.3:c.1002+56_1002+57insACCCC MANE Select | NP_001839.2:n.1002+56_1002+57insACCCC |