Linked Data
dbSNP Id:
rs1262386416
gnomAD v3:
2-55666839-TCAAACAAAACAAA-T
gnomAD v4:
2-55666839-TCAAACAAAACAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55666843_55666855del , CM000664.2:g.55666843_55666855del | GRCh38 |
| NC_000002.11:g.55893978_55893990del , CM000664.1:g.55893978_55893990del | GRCh37 |
| NC_000002.10:g.55747482_55747494del | NCBI36 |
| NG_033012.1:g.32059_32071del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.1176+139_1176+151del MANE Select | ENSP00000400646.2:n.1176+139_1176+151del | |
| ENST00000260604.8:c.*731+139_*731+151del | ENSP00000260604.4:n.*731+139_*731+151del | |
| ENST00000415374.5:c.1176+139_1176+151del | ENSP00000393953.1:n.1176+139_1176+151del | |
| ENST00000415489.1:c.250+139_250+151del | ||
| ENST00000447944.6:c.1176+139_1176+151del | ENSP00000400646.2:n.1176+139_1176+151del | |
| NM_033109.4:c.1176+139_1176+151del | NP_149100.2:n.1176+139_1176+151del | |
| XM_005264629.1:c.936+139_936+151del | XP_005264686.1:n.936+139_936+151del | |
| XM_011533142.1:c.1176+139_1176+151del | XP_011531444.1:n.1176+139_1176+151del | |
| XM_005264629.2:c.936+139_936+151del | XP_005264686.1:n.936+139_936+151del | |
| XM_017005172.1:c.936+139_936+151del | XP_016860661.1:n.936+139_936+151del | |
| XR_001739010.1:n.1206+139_1206+151del | ||
| NM_033109.5:c.1176+139_1176+151del MANE Select | NP_149100.2:n.1176+139_1176+151del |