Linked Data
dbSNP Id:
rs763925536
ExAC:
2:31754333 GAAGA / G
gnomAD v2:
2-31754333-GAAGA-G
gnomAD v3:
2-31529263-GAAGA-G
gnomAD v4:
2-31529263-GAAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529267_31529270del , CM000664.2:g.31529267_31529270del | GRCh38 |
| NC_000002.11:g.31754337_31754340del , CM000664.1:g.31754337_31754340del | GRCh37 |
| NC_000002.10:g.31607841_31607844del | NCBI36 |
| NG_008365.1:g.56705_56708del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.698+40_698+43del MANE Select | ENSP00000477587.1:n.698+40_698+43del | |
| ENST00000622030.1:c.698+40_698+43del | ENSP00000477587.1:n.698+40_698+43del | |
| NM_000348.3:c.698+40_698+43del | NP_000339.2:n.698+40_698+43del | |
| XM_011533069.1:c.476+40_476+43del | XP_011531371.1:n.476+40_476+43del | |
| XM_011533070.1:c.443+40_443+43del | XP_011531372.1:n.443+40_443+43del | |
| XM_011533071.1:c.443+40_443+43del | XP_011531373.1:n.443+40_443+43del | |
| XM_011533072.1:c.443+40_443+43del | XP_011531374.1:n.443+40_443+43del | |
| XM_011533069.2:c.476+40_476+43del | XP_011531371.1:n.476+40_476+43del | |
| XM_011533072.2:c.443+40_443+43del | XP_011531374.1:n.443+40_443+43del | |
| NM_000348.4:c.698+40_698+43del MANE Select | NP_000339.2:n.698+40_698+43del |