Linked Data
dbSNP Id:
rs58962659
gnomAD v2:
17-80685307-TCA-T
gnomAD v3:
17-82727431-TCA-T
gnomAD v4:
17-82727431-TCA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82727433_82727434del , CM000679.2:g.82727433_82727434del | GRCh38 |
| NC_000017.10:g.80685309_80685310del , CM000679.1:g.80685309_80685310del | GRCh37 |
| NC_000017.9:g.78278598_78278599del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269373.11:c.*262_*263del MANE Select | ENSP00000269373.6:n.*262_*263del | |
| ENST00000269373.10:c.*262_*263del | ENSP00000269373.6:n.*262_*263del | |
| ENST00000571594.1:c.53+266_53+267del | ENSP00000459751.1:n.53+266_53+267del | |
| ENST00000574832.5:c.*1149_*1150del | ENSP00000460869.1:n.*1149_*1150del | |
| NM_024619.3:c.*262_*263del | NP_078895.2:n.*262_*263del | |
| NR_046408.1:n.1370_1371del | ||
| XM_024450948.1:c.*262_*263del | XP_024306716.1:n.*262_*263del | |
| NM_024619.4:c.*262_*263del MANE Select | NP_078895.2:n.*262_*263del | |
| NR_046408.2:n.1370_1371del |