Linked Data
dbSNP Id:
rs1216020764
gnomAD v2:
7-107329683-TG-T
gnomAD v3:
7-107689238-TG-T
gnomAD v4:
7-107689238-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689240del , CM000669.2:g.107689240del | GRCh38 |
| NC_000007.13:g.107329685del , CM000669.1:g.107329685del | GRCh37 |
| NC_000007.12:g.107116921del | NCBI36 |
| NG_008489.1:g.33606del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1149+40del MANE Select | ENSP00000494017.1:n.1149+40del | |
| ENST00000265715.7:c.1149+40del | ENSP00000265715.3:n.1149+40del | |
| NM_000441.1:c.1149+40del | NP_000432.1:n.1149+40del | |
| XM_005250425.1:c.1149+40del | XP_005250482.1:n.1149+40del | |
| XM_006716025.2:c.1149+40del | XP_006716088.1:n.1149+40del | |
| XM_005250425.2:c.1149+40del | XP_005250482.1:n.1149+40del | |
| XM_006716025.3:c.1149+40del | XP_006716088.1:n.1149+40del | |
| XM_017012318.1:c.1149+40del | XP_016867807.1:n.1149+40del | |
| NM_000441.2:c.1149+40del MANE Select | NP_000432.1:n.1149+40del |