Linked Data
dbSNP Id:
rs1162420214
gnomAD v2:
16-1634042-CTTA-C
gnomAD v3:
16-1584041-CTTA-C
gnomAD v4:
16-1584041-CTTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1584045_1584047del , CM000678.2:g.1584045_1584047del | GRCh38 |
| NC_000016.9:g.1634046_1634048del , CM000678.1:g.1634046_1634048del | GRCh37 |
| NC_000016.8:g.1574047_1574049del | NCBI36 |
| NG_032783.1:g.33065_33067del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426508.7:c.1359+173_1359+175del MANE Select | ENSP00000406012.2:n.1359+173_1359+175del | |
| ENST00000397417.6:c.532+173_532+175del | ENSP00000380562.2:n.532+173_532+175del | |
| ENST00000426508.6:c.1359+173_1359+175del | ENSP00000406012.2:n.1359+173_1359+175del | |
| ENST00000439987.6:n.1420+173_1420+175del | ||
| ENST00000565298.5:n.47+173_47+175del | ||
| NM_014714.3:c.1359+173_1359+175del | NP_055529.2:n.1359+173_1359+175del | |
| XM_005255725.3:c.1359+173_1359+175del | XP_005255782.1:n.1359+173_1359+175del | |
| XM_005255726.2:c.1359+173_1359+175del | XP_005255783.1:n.1359+173_1359+175del | |
| XM_006720989.2:c.1359+173_1359+175del | XP_006721052.1:n.1359+173_1359+175del | |
| XM_006720990.2:c.1359+173_1359+175del | XP_006721053.1:n.1359+173_1359+175del | |
| XM_006720991.2:c.1359+173_1359+175del | XP_006721054.1:n.1359+173_1359+175del | |
| XM_011522766.1:c.1359+173_1359+175del | XP_011521068.1:n.1359+173_1359+175del | |
| XM_011522767.1:c.384+173_384+175del | XP_011521069.1:n.384+173_384+175del | |
| XM_011522768.1:c.1359+173_1359+175del | XP_011521070.1:n.1359+173_1359+175del | |
| XM_011522769.1:c.1359+173_1359+175del | XP_011521071.1:n.1359+173_1359+175del | |
| XM_011522771.1:c.1359+173_1359+175del | XP_011521073.1:n.1359+173_1359+175del | |
| XM_011522772.1:c.1359+173_1359+175del | XP_011521074.1:n.1359+173_1359+175del | |
| NR_135176.1:n.59+3460_59+3462del | ||
| XM_005255725.5:c.1359+173_1359+175del | XP_005255782.1:n.1359+173_1359+175del | |
| XM_005255726.4:c.1359+173_1359+175del | XP_005255783.1:n.1359+173_1359+175del | |
| XM_006720990.3:c.1359+173_1359+175del | XP_006721053.1:n.1359+173_1359+175del | |
| XM_006720991.3:c.1359+173_1359+175del | XP_006721054.1:n.1359+173_1359+175del | |
| XM_011522766.3:c.1359+173_1359+175del | XP_011521068.1:n.1359+173_1359+175del | |
| XM_011522767.2:c.384+173_384+175del | XP_011521069.1:n.384+173_384+175del | |
| XM_011522769.3:c.1359+173_1359+175del | XP_011521071.1:n.1359+173_1359+175del | |
| XM_011522771.3:c.1359+173_1359+175del | XP_011521073.1:n.1359+173_1359+175del | |
| XM_011522772.3:c.1359+173_1359+175del | XP_011521074.1:n.1359+173_1359+175del | |
| XM_017023910.1:c.1359+173_1359+175del | XP_016879399.1:n.1359+173_1359+175del | |
| XM_017023911.1:c.-339+173_-339+175del | XP_016879400.1:n.-339+173_-339+175del | |
| NM_014714.4:c.1359+173_1359+175del MANE Select | NP_055529.2:n.1359+173_1359+175del |