Linked Data
dbSNP Id:
rs1039347151
gnomAD v2:
11-67254956-C-CA
gnomAD v3:
11-67487485-C-CA
gnomAD v4:
11-67487485-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487486dup , CM000673.2:g.67487486dup | GRCh38 |
| NC_000011.9:g.67254957dup , CM000673.1:g.67254957dup | GRCh37 |
| NC_000011.8:g.67011533dup | NCBI36 |
| NG_008969.1:g.9453dup , LRG_460:g.9453dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.256+301dup | ||
| ENST00000528641.7:c.279+301dup | ENSP00000434982.3:n.279+301dup | |
| ENST00000529797.2:n.209+301dup | ||
| ENST00000682324.1:c.279+301dup | ENSP00000508017.1:n.279+301dup | |
| ENST00000682659.1:c.100-2552dup | ENSP00000507351.1:n.100-2552dup | |
| ENST00000682699.1:c.279+301dup | ENSP00000507935.1:n.279+301dup | |
| ENST00000683237.1:c.279+301dup | ENSP00000507343.1:n.279+301dup | |
| ENST00000683856.1:c.102+301dup | ENSP00000507979.1:n.102+301dup | |
| ENST00000684006.1:c.279+301dup | ENSP00000507269.1:n.279+301dup | |
| ENST00000684657.1:c.100-1781dup | ENSP00000507961.1:n.100-1781dup | |
| ENST00000279146.8:c.279+301dup MANE Select | ENSP00000279146.3:n.279+301dup | |
| ENST00000279146.7:c.279+301dup | ENSP00000279146.3:n.279+301dup | |
| ENST00000528641.6:c.279+301dup | ENSP00000434982.2:n.279+301dup | |
| ENST00000529797.1:n.389+301dup | ||
| NM_001302959.1:c.102+301dup | NP_001289888.1:n.102+301dup | |
| NM_001302960.1:c.279+301dup | NP_001289889.1:n.279+301dup | |
| NM_003977.3:c.279+301dup | NP_003968.3:n.279+301dup | |
| XM_024448761.1:c.279+301dup | XP_024304529.1:n.279+301dup | |
| NM_003977.4:c.279+301dup MANE Select | NP_003968.3:n.279+301dup | |
| NM_001302960.2:c.279+301dup | NP_001289889.1:n.279+301dup | |
| NM_001302959.2:c.102+301dup | NP_001289888.1:n.102+301dup |