Linked Data
dbSNP Id:
rs748236654
ExAC:
12:115112551 TGGA / T
gnomAD v2:
12-115112551-TGGA-T
gnomAD v4:
12-114674746-TGGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.114674748_114674750del , CM000674.2:g.114674748_114674750del | GRCh38 |
| NC_000012.11:g.115112553_115112555del , CM000674.1:g.115112553_115112555del | GRCh37 |
| NC_000012.10:g.113596936_113596938del | NCBI36 |
| NG_008315.1:g.14416_14418del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349155.7:c.1126_1128del MANE Select | ENSP00000257567.2:p.Ser376del | |
| ENST00000257566.7:c.1186_1188del | ENSP00000257566.3:p.Ser396del | |
| ENST00000349155.6:c.1126_1128del | ENSP00000257567.2:p.Ser376del | |
| ENST00000613550.1:c.1126_1128del | ENSP00000480048.1:p.Ser376del | |
| NM_005996.3:c.1126_1128del | NP_005987.3:p.Ser376del | |
| NM_016569.3:c.1186_1188del | NP_057653.3:p.Ser396del | |
| NM_005996.4:c.1126_1128del MANE Select | NP_005987.3:p.Ser376del | |
| NM_016569.4:c.1186_1188del | NP_057653.3:p.Ser396del |