Linked Data
dbSNP Id:
rs2077769455
gnomAD v3:
21-45990474-A-AAGGTGACCCGGGGAGG
gnomAD v4:
21-45990474-A-AAGGTGACCCGGGGAGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990474_45990475insAGGTGACCCGGGGAGG , CM000683.2:g.45990474_45990475insAGGTGACCCGGGGAGG | GRCh38 |
| NC_000021.8:g.47410388_47410389insAGGTGACCCGGGGAGG , CM000683.1:g.47410388_47410389insAGGTGACCCGGGGAGG | GRCh37 |
| NC_000021.7:g.46234816_46234817insAGGTGACCCGGGGAGG | NCBI36 |
| NG_008674.1:g.13726_13727insAGGTGACCCGGGGAGG , LRG_475:g.13726_13727insAGGTGACCCGGGGAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1002+52_1002+53insAGGTGACCCGGGGAGG MANE Select | ENSP00000355180.3:n.1002+52_1002+53insAGGTGACCCGGGGAGG | |
| ENST00000361866.7:c.1002+52_1002+53insAGGTGACCCGGGGAGG | ENSP00000355180.3:n.1002+52_1002+53insAGGTGACCCGGGGAGG | |
| ENST00000612273.1:c.1002+52_1002+53insAGGTGACCCGGGGAGG | ENSP00000483630.1:n.1002+52_1002+53insAGGTGACCCGGGGAGG | |
| NM_001848.2:c.1002+52_1002+53insAGGTGACCCGGGGAGG , LRG_475t1:c.1002+52_1002+53insAGGTGACCCGGGGAGG | NP_001839.2:n.1002+52_1002+53insAGGTGACCCGGGGAGG | |
| NM_001848.3:c.1002+52_1002+53insAGGTGACCCGGGGAGG MANE Select | NP_001839.2:n.1002+52_1002+53insAGGTGACCCGGGGAGG |