Linked Data
gnomAD v3:
2-43887176-C-CAAAAAAAAAAAAAAAAAAA
gnomAD v4:
2-43887176-C-CAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887179_43887180insAAAAAAAAAAAAAAAAAAA , CM000664.2:g.43887179_43887180insAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000002.11:g.44114318_44114319insAAAAAAAAAAAAAAAAAAA , CM000664.1:g.44114318_44114319insAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000002.10:g.43967822_43967823insAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_008247.1:g.113829_113830insTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2375_2376insTTTTTTTTTTTTTTTTTTT | ||
| ENST00000684454.1:n.9472_9473insTTTTTTTTTTTTTTTTTTT | ||
| ENST00000260665.12:c.*1423_*1424insTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000260665.7:n.*1423_*1424insTTTTTTTTTTTTTTTTTTT | |
| ENST00000260665.11:c.*1423_*1424insTTTTTTTTTTTTTTTTTTT | ENSP00000260665.7:n.*1423_*1424insTTTTTTTTTTTTTTTTTTT | |
| NM_133259.3:c.*1423_*1424insTTTTTTTTTTTTTTTTTTT | NP_573566.2:n.*1423_*1424insTTTTTTTTTTTTTTTTTTT | |
| XR_002958896.1:n.5790_5791insTTTTTTTTTTTTTTTTTTT | ||
| NM_133259.4:c.*1423_*1424insTTTTTTTTTTTTTTTTTTT MANE Select | NP_573566.2:n.*1423_*1424insTTTTTTTTTTTTTTTTTTT |