Linked Data
dbSNP Id:
rs781850501
ExAC:
12:6978949 CAGG / C
gnomAD v2:
12-6978949-CAGG-C
gnomAD v3:
12-6869785-CAGG-C
gnomAD v4:
12-6869785-CAGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6869788_6869790del , CM000674.2:g.6869788_6869790del | GRCh38 |
| NC_000012.11:g.6978952_6978954del , CM000674.1:g.6978952_6978954del | GRCh37 |
| NC_000012.10:g.6849213_6849215del | NCBI36 |
| NG_011948.1:g.7369_7371del | |
| NG_013308.1:g.8570_8572del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396705.10:c.543+15_543+17del MANE Select | ENSP00000379933.4:n.543+15_543+17del | |
| ENST00000229270.8:c.654+15_654+17del | ENSP00000229270.4:n.654+15_654+17del | |
| ENST00000396705.9:c.543+15_543+17del | ENSP00000379933.4:n.543+15_543+17del | |
| ENST00000482209.1:n.226+15_226+17del | ||
| ENST00000488464.6:c.297+15_297+17del | ENSP00000475620.1:n.297+15_297+17del | |
| ENST00000493987.5:c.297+15_297+17del | ENSP00000475364.1:n.297+15_297+17del | |
| ENST00000535434.5:c.297+15_297+17del | ENSP00000443599.1:n.297+15_297+17del | |
| ENST00000613953.4:c.654+15_654+17del | ENSP00000484435.1:n.654+15_654+17del | |
| NM_000365.5:c.543+15_543+17del | NP_000356.1:n.543+15_543+17del | |
| NM_001159287.1:c.654+15_654+17del | NP_001152759.1:n.654+15_654+17del | |
| NM_001258026.1:c.297+15_297+17del | NP_001244955.1:n.297+15_297+17del | |
| XR_002957378.1:n.1291_1293del | ||
| NM_000365.6:c.543+15_543+17del MANE Select | NP_000356.1:n.543+15_543+17del | |
| NM_001258026.2:c.297+15_297+17del | NP_001244955.1:n.297+15_297+17del |