Linked Data
dbSNP Id:
rs1670296193
gnomAD v3:
2-43887142-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAAA
gnomAD v4:
2-43887142-T-TAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43887142_43887143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.2:g.43887142_43887143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh38 |
| NC_000002.11:g.44114281_44114282insAAAAAAAAAAAAAAAAAAAAAAAAAAAA , CM000664.1:g.44114281_44114282insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | GRCh37 |
| NC_000002.10:g.43967785_43967786insAAAAAAAAAAAAAAAAAAAAAAAAAAAA | NCBI36 |
| NG_008247.1:g.113863_113864insTTTTTTTTTTTTTTTTTTTTTTTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682612.1:c.2409_2410insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000684454.1:n.9506_9507insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000260665.12:c.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000260665.7:n.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| ENST00000260665.11:c.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000260665.7:n.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTT... | |
| NM_133259.3:c.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | NP_573566.2:n.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | |
| XR_002958896.1:n.5824_5825insTTTTTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_133259.4:c.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_573566.2:n.*1457_*1458insTTTTTTTTTTTTTTTTTTTTTTTTTTTT |