Linked Data
dbSNP Id:
rs959278522
gnomAD v2:
11-67254766-CT-C
gnomAD v3:
11-67487295-CT-C
gnomAD v4:
11-67487295-CT-C
COSMIC:
COSN2531736
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487306del , CM000673.2:g.67487306del | GRCh38 |
| NC_000011.9:g.67254777del , CM000673.1:g.67254777del | GRCh37 |
| NC_000011.8:g.67011353del | NCBI36 |
| NG_008969.1:g.9273del , LRG_460:g.9273del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.256+121del | ||
| ENST00000528641.7:c.279+121del | ENSP00000434982.3:n.279+121del | |
| ENST00000529797.2:n.209+121del | ||
| ENST00000682324.1:c.279+121del | ENSP00000508017.1:n.279+121del | |
| ENST00000682659.1:c.100-2732del | ENSP00000507351.1:n.100-2732del | |
| ENST00000682699.1:c.279+121del | ENSP00000507935.1:n.279+121del | |
| ENST00000683237.1:c.279+121del | ENSP00000507343.1:n.279+121del | |
| ENST00000683856.1:c.102+121del | ENSP00000507979.1:n.102+121del | |
| ENST00000684006.1:c.279+121del | ENSP00000507269.1:n.279+121del | |
| ENST00000684657.1:c.100-1961del | ENSP00000507961.1:n.100-1961del | |
| ENST00000279146.8:c.279+121del MANE Select | ENSP00000279146.3:n.279+121del | |
| ENST00000279146.7:c.279+121del | ENSP00000279146.3:n.279+121del | |
| ENST00000528641.6:c.279+121del | ENSP00000434982.2:n.279+121del | |
| ENST00000529797.1:n.389+121del | ||
| NM_001302959.1:c.102+121del | NP_001289888.1:n.102+121del | |
| NM_001302960.1:c.279+121del | NP_001289889.1:n.279+121del | |
| NM_003977.3:c.279+121del | NP_003968.3:n.279+121del | |
| XM_024448761.1:c.279+121del | XP_024304529.1:n.279+121del | |
| NM_003977.4:c.279+121del MANE Select | NP_003968.3:n.279+121del | |
| NM_001302960.2:c.279+121del | NP_001289889.1:n.279+121del | |
| NM_001302959.2:c.102+121del | NP_001289888.1:n.102+121del |