Linked Data
dbSNP Id:
rs1339720356
gnomAD v3:
12-102846764-AAATGT-A
gnomAD v4:
12-102846764-AAATGT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846767_102846771del , CM000674.2:g.102846767_102846771del | GRCh38 |
| NC_000012.11:g.103240545_103240549del , CM000674.1:g.103240545_103240549del | GRCh37 |
| NC_000012.10:g.101764675_101764679del | NCBI36 |
| NG_008690.1:g.75834_75838del | |
| NG_008690.2:g.116642_116646del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.969+126_969+130del MANE Select | ENSP00000448059.1:n.969+126_969+130del | |
| ENST00000307000.7:c.954+126_954+130del | ENSP00000303500.2:n.954+126_954+130del | |
| ENST00000549247.6:n.728+126_728+130del | ||
| ENST00000551114.2:n.631+126_631+130del | ||
| ENST00000553106.5:c.969+126_969+130del | ENSP00000448059.1:n.969+126_969+130del | |
| ENST00000635477.1:c.74-2338_74-2334del | ||
| ENST00000635528.1:n.484+126_484+130del | ||
| NM_000277.1:c.969+126_969+130del | NP_000268.1:n.969+126_969+130del | |
| XM_011538422.1:c.913-2338_913-2334del | XP_011536724.1:n.913-2338_913-2334del | |
| NM_000277.2:c.969+126_969+130del | NP_000268.1:n.969+126_969+130del | |
| NM_001354304.1:c.969+126_969+130del | NP_001341233.1:n.969+126_969+130del | |
| NM_000277.3:c.969+126_969+130del MANE Select | NP_000268.1:n.969+126_969+130del | |
| NM_001354304.2:c.969+126_969+130del | NP_001341233.1:n.969+126_969+130del |