Linked Data
dbSNP Id:
rs1282552997
gnomAD v2:
3-143005117-TGG-T
gnomAD v3:
3-143286275-TGG-T
gnomAD v4:
3-143286275-TGG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.143286279_143286280del , CM000665.2:g.143286279_143286280del | GRCh38 |
| NC_000003.11:g.143005121_143005122del , CM000665.1:g.143005121_143005122del | GRCh37 |
| NC_000003.10:g.144487811_144487812del | NCBI36 |
| NG_017077.1:g.567255_567256del | |
| NG_017077.2:g.567255_567256del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316549.11:c.1605-17297_1605-17296del MANE Select | ENSP00000320246.6:n.1605-17297_1605-17296del | |
| ENST00000316549.10:c.1605-17297_1605-17296del | ENSP00000320246.6:n.1605-17297_1605-17296del | |
| NM_173653.3:c.1605-17297_1605-17296del | NP_775924.1:n.1605-17297_1605-17296del | |
| XM_011512703.1:c.957-17297_957-17296del | XP_011511005.1:n.957-17297_957-17296del | |
| XM_011512703.3:c.957-17297_957-17296del | XP_011511005.1:n.957-17297_957-17296del | |
| XM_017006202.2:c.1712-1935_1712-1934del | XP_016861691.1:n.1712-1935_1712-1934del | |
| XM_017006203.1:c.1254-17297_1254-17296del | XP_016861692.1:n.1254-17297_1254-17296del | |
| NM_173653.4:c.1605-17297_1605-17296del MANE Select | NP_775924.1:n.1605-17297_1605-17296del |