Linked Data
dbSNP Id:
rs1011977467
gnomAD v2:
17-61503627-TAAC-T
gnomAD v3:
17-63426266-TAAC-T
gnomAD v4:
17-63426266-TAAC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63426272_63426274del , CM000679.2:g.63426272_63426274del | GRCh38 |
| NC_000017.10:g.61503633_61503635del , CM000679.1:g.61503633_61503635del | GRCh37 |
| NC_000017.9:g.58857365_58857367del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000689528.1:c.*4317_*4319del MANE Select | ENSP00000510600.1:n.*4317_*4319del | |
| ENST00000424789.6:c.*4317_*4319del | ENSP00000387593.2:n.*4317_*4319del | |
| NM_025185.3:c.*4317_*4319del | NP_079461.2:n.*4317_*4319del | |
| XM_005257203.3:c.*4317_*4319del | XP_005257260.1:n.*4317_*4319del | |
| XM_006721806.2:c.*4317_*4319del | XP_006721869.1:n.*4317_*4319del | |
| XM_006721807.2:c.*4317_*4319del | XP_006721870.1:n.*4317_*4319del | |
| XM_011524597.1:c.*4317_*4319del | XP_011522899.1:n.*4317_*4319del | |
| XM_011524598.1:c.*4317_*4319del | XP_011522900.1:n.*4317_*4319del | |
| XM_011524599.1:c.*4317_*4319del | XP_011522901.1:n.*4317_*4319del | |
| XM_011524600.1:c.*4317_*4319del | XP_011522902.1:n.*4317_*4319del | |
| XM_011524601.1:c.*4317_*4319del | XP_011522903.1:n.*4317_*4319del | |
| XM_011524602.1:c.*4317_*4319del | XP_011522904.1:n.*4317_*4319del | |
| XM_011524603.1:c.*4317_*4319del | XP_011522905.1:n.*4317_*4319del | |
| XM_011524604.1:c.*4317_*4319del | XP_011522906.1:n.*4317_*4319del | |
| XM_005257203.4:c.*4317_*4319del | XP_005257260.1:n.*4317_*4319del | |
| XM_006721806.3:c.*4317_*4319del | XP_006721869.1:n.*4317_*4319del | |
| XM_006721807.3:c.*4317_*4319del | XP_006721870.1:n.*4317_*4319del | |
| XM_006721811.4:c.*6211_*6213del | XP_006721874.1:n.*6211_*6213del | |
| XM_011524597.2:c.*4317_*4319del | XP_011522899.1:n.*4317_*4319del | |
| XM_011524598.2:c.*4317_*4319del | XP_011522900.1:n.*4317_*4319del | |
| XM_011524600.2:c.*4317_*4319del | XP_011522902.1:n.*4317_*4319del | |
| XM_011524601.2:c.*4317_*4319del | XP_011522903.1:n.*4317_*4319del | |
| XM_011524602.2:c.*4317_*4319del | XP_011522904.1:n.*4317_*4319del | |
| XM_017024429.1:c.*4317_*4319del | XP_016879918.1:n.*4317_*4319del | |
| XM_017024430.2:c.*4317_*4319del | XP_016879919.1:n.*4317_*4319del | |
| NM_025185.4:c.*4317_*4319del | NP_079461.2:n.*4317_*4319del | |
| NM_001394998.1:c.*4317_*4319del MANE Select | NP_001381927.1:n.*4317_*4319del |