Linked Data
dbSNP Id:
rs1183155628
gnomAD v2:
11-61655251-AGAATCAATGAGT-A
gnomAD v3:
11-61887779-AGAATCAATGAGT-A
gnomAD v4:
11-61887779-AGAATCAATGAGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61887781_61887792del , CM000673.2:g.61887781_61887792del | GRCh38 |
| NC_000011.9:g.61655253_61655264del , CM000673.1:g.61655253_61655264del | GRCh37 |
| NC_000011.8:g.61411829_61411840del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278829.7:c.213+3378_213+3389del MANE Select | ENSP00000278829.2:n.213+3378_213+3389del | |
| ENST00000278829.6:c.213+3378_213+3389del | ENSP00000278829.2:n.213+3378_213+3389del | |
| ENST00000414624.6:n.286+3378_286+3389del | ||
| ENST00000525588.5:c.213+3378_213+3389del | ENSP00000432206.1:n.213+3378_213+3389del | |
| ENST00000527697.5:c.-160+4068_-160+4079del | ENSP00000431533.1:n.-160+4068_-160+4079del | |
| NM_021727.4:c.213+3378_213+3389del | NP_068373.1:n.213+3378_213+3389del | |
| XM_011545023.1:c.213+3378_213+3389del | XP_011543325.1:n.213+3378_213+3389del | |
| XM_011545023.2:c.213+3378_213+3389del | XP_011543325.1:n.213+3378_213+3389del | |
| XM_017017723.1:c.351+4068_351+4079del | XP_016873212.1:n.351+4068_351+4079del | |
| XM_017017724.1:c.351+4068_351+4079del | XP_016873213.1:n.351+4068_351+4079del | |
| XR_001747866.1:n.366+4068_366+4079del | ||
| XR_001747867.1:n.366+4068_366+4079del | ||
| XR_001747868.1:n.377+3378_377+3389del | ||
| XR_001747869.1:n.377+3378_377+3389del | ||
| NM_021727.5:c.213+3378_213+3389del MANE Select | NP_068373.1:n.213+3378_213+3389del |