Linked Data
dbSNP Id:
rs764605092
gnomAD v2:
1-216040695-TA-T
gnomAD v3:
1-215867353-TA-T
gnomAD v4:
1-215867353-TA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215867355del , CM000663.2:g.215867355del | GRCh38 |
| NC_000001.10:g.216040697del , CM000663.1:g.216040697del | GRCh37 |
| NC_000001.9:g.214107320del | NCBI36 |
| NG_009497.1:g.561043del | |
| NG_009497.2:g.561095del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.8682-184del MANE Select | ENSP00000305941.3:n.8682-184del | |
| ENST00000674083.1:c.8682-184del | ENSP00000501296.1:n.8682-184del | |
| ENST00000307340.7:c.8682-184del | ENSP00000305941.3:n.8682-184del | |
| NM_206933.2:c.8682-184del | NP_996816.2:n.8682-184del | |
| NM_206933.3:c.8682-184del | NP_996816.2:n.8682-184del | |
| NM_206933.4:c.8682-184del MANE Select | NP_996816.3:n.8682-184del |