Linked Data
gnomAD v4:
21-45990493-G-GAAGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990493_45990494insAAGGT , CM000683.2:g.45990493_45990494insAAGGT | GRCh38 |
| NC_000021.8:g.47410407_47410408insAAGGT , CM000683.1:g.47410407_47410408insAAGGT | GRCh37 |
| NC_000021.7:g.46234835_46234836insAAGGT | NCBI36 |
| NG_008674.1:g.13745_13746insAAGGT , LRG_475:g.13745_13746insAAGGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+71_1002+72insAAGGT MANE Select | ENSP00000355180.3:n.1002+71_1002+72insAAGGT | |
| ENST00000361866.7:c.1002+71_1002+72insAAGGT | ENSP00000355180.3:n.1002+71_1002+72insAAGGT | |
| ENST00000612273.1:c.1002+71_1002+72insAAGGT | ENSP00000483630.1:n.1002+71_1002+72insAAGGT | |
| NM_001848.2:c.1002+71_1002+72insAAGGT , LRG_475t1:c.1002+71_1002+72insAAGGT | NP_001839.2:n.1002+71_1002+72insAAGGT | |
| NM_001848.3:c.1002+71_1002+72insAAGGT MANE Select | NP_001839.2:n.1002+71_1002+72insAAGGT |