Linked Data
dbSNP Id:
rs1951375853
gnomAD v3:
12-25225278-CCTGTTCTT-C
gnomAD v4:
12-25225278-CCTGTTCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25225279_25225286del , CM000674.2:g.25225279_25225286del | GRCh38 |
| NC_000012.11:g.25378213_25378220del , CM000674.1:g.25378213_25378220del | GRCh37 |
| NC_000012.10:g.25269480_25269487del | NCBI36 |
| NG_007524.1:g.30635_30642del | |
| NG_007524.2:g.30718_30725del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000557334.6:c.112-15375_112-15368del | ENSP00000452512.1:n.112-15375_112-15368del | |
| ENST00000685328.1:c.450+328_450+335del | ENSP00000508921.1:n.450+328_450+335del | |
| ENST00000686877.1:c.*421+328_*421+335del | ENSP00000510431.1:n.*421+328_*421+335del | |
| ENST00000687356.1:c.*148+328_*148+335del | ENSP00000510511.1:n.*148+328_*148+335del | |
| ENST00000688228.1:n.924+328_924+335del | ||
| ENST00000688940.1:c.450+328_450+335del | ENSP00000509238.1:n.450+328_450+335del | |
| ENST00000690406.1:c.160+328_160+335del | ||
| ENST00000690804.1:c.*411+328_*411+335del | ENSP00000508568.1:n.*411+328_*411+335del | |
| ENST00000692768.1:c.252+328_252+335del | ENSP00000510254.1:n.252+328_252+335del | |
| ENST00000693229.1:c.375+328_375+335del | ENSP00000509223.1:n.375+328_375+335del | |
| ENST00000256078.10:c.450+328_450+335del MANE Plus Clinical | ENSP00000256078.5:n.450+328_450+335del | |
| ENST00000311936.8:c.450+328_450+335del MANE Select | ENSP00000308495.3:n.450+328_450+335del | |
| ENST00000256078.8:c.450+328_450+335del | ENSP00000256078.4:n.450+328_450+335del | |
| ENST00000311936.7:c.450+328_450+335del | ENSP00000308495.3:n.450+328_450+335del | |
| ENST00000557334.5:c.112-15375_112-15368del | ENSP00000452512.1:n.112-15375_112-15368del | |
| NM_004985.4:c.450+328_450+335del | NP_004976.2:n.450+328_450+335del | |
| NM_033360.3:c.450+328_450+335del | NP_203524.1:n.450+328_450+335del | |
| XM_006719069.2:c.450+328_450+335del | XP_006719132.1:n.450+328_450+335del | |
| XM_011520653.1:c.450+328_450+335del | XP_011518955.1:n.450+328_450+335del | |
| XM_006719069.4:c.450+328_450+335del | XP_006719132.1:n.450+328_450+335del | |
| XM_011520653.3:c.450+328_450+335del | XP_011518955.1:n.450+328_450+335del | |
| NM_001369786.1:c.450+328_450+335del | NP_001356715.1:n.450+328_450+335del | |
| NM_001369787.1:c.450+328_450+335del | NP_001356716.1:n.450+328_450+335del | |
| NM_004985.5:c.450+328_450+335del MANE Select | NP_004976.2:n.450+328_450+335del | |
| NM_033360.4:c.450+328_450+335del MANE Plus Clinical | NP_203524.1:n.450+328_450+335del |