Linked Data
dbSNP Id:
rs1414986764
gnomAD v2:
1-172634838-TAAG-T
gnomAD v3:
1-172665698-TAAG-T
gnomAD v4:
1-172665698-TAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.172665702_172665704del , CM000663.2:g.172665702_172665704del | GRCh38 |
| NC_000001.10:g.172634842_172634844del , CM000663.1:g.172634842_172634844del | GRCh37 |
| NC_000001.9:g.170901465_170901467del | NCBI36 |
| NG_007269.1:g.11658_11660del , LRG_58:g.11658_11660del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367721.3:c.532_534del MANE Select | ENSP00000356694.2:p.Lys178del | |
| ENST00000340030.4:c.*102_*104del | ENSP00000344739.3:n.*102_*104del | |
| ENST00000367721.2:c.532_534del | ENSP00000356694.2:p.Lys178del | |
| NM_000639.2:c.532_534del | NP_000630.1:p.Lys178del | |
| NM_001302746.1:c.*102_*104del | NP_001289675.1:n.*102_*104del | |
| NM_000639.3:c.532_534del MANE Select | NP_000630.1:p.Lys178del | |
| NM_001302746.2:c.*102_*104del | NP_001289675.1:n.*102_*104del |