Linked Data
dbSNP Id:
rs1219544482
gnomAD v2:
1-230849154-CT-C
gnomAD v3:
1-230713408-CT-C
gnomAD v4:
1-230713408-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230713409del , CM000663.2:g.230713409del | GRCh38 |
| NC_000001.10:g.230849155del , CM000663.1:g.230849155del | GRCh37 |
| NC_000001.9:g.228915778del | NCBI36 |
| NG_008836.1:g.6182del | |
| NG_008836.2:g.6182del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.-31+677del MANE Select | ENSP00000355627.5:n.-31+677del | |
| ENST00000679684.1:c.-31+677del | ENSP00000505981.1:n.-31+677del | |
| ENST00000679738.1:c.-31+677del | ENSP00000505063.1:n.-31+677del | |
| ENST00000679802.1:c.-31+677del | ENSP00000505184.1:n.-31+677del | |
| ENST00000679854.1:n.481+677del | ||
| ENST00000679957.1:c.-31+677del | ENSP00000506646.1:n.-31+677del | |
| ENST00000680041.1:c.-156+677del | ENSP00000504866.1:n.-156+677del | |
| ENST00000680783.1:c.-31+677del | ENSP00000506329.1:n.-31+677del | |
| ENST00000681269.1:c.-30-2556del | ENSP00000505985.1:n.-30-2556del | |
| ENST00000681347.1:n.481+677del | ||
| ENST00000681514.1:c.-117-40del | ENSP00000505963.1:n.-117-40del | |
| ENST00000681772.1:c.-31+677del | ENSP00000505829.1:n.-31+677del | |
| ENST00000366667.4:c.-4+677del | ENSP00000355627.4:n.-4+677del | |
| NM_000029.3:c.-4+677del | NP_000020.1:n.-4+677del | |
| NM_000029.4:c.-4+677del | NP_000020.1:n.-4+677del | |
| NM_001382817.3:c.-30-2556del | NP_001369746.2:n.-30-2556del | |
| NM_001384479.1:c.-31+677del MANE Select | NP_001371408.1:n.-31+677del |