Linked Data
dbSNP Id:
rs1221658037
gnomAD v2:
15-78909492-GGGAGGGA-G
gnomAD v4:
15-78617150-GGGAGGGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78617152_78617158del , CM000677.2:g.78617152_78617158del | GRCh38 |
| NC_000015.9:g.78909494_78909500del , CM000677.1:g.78909494_78909500del | GRCh37 |
| NC_000015.8:g.76696549_76696555del | NCBI36 |
| NG_016143.1:g.9139_9145del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326828.6:c.268-24_268-18del MANE Select | ENSP00000315602.5:n.268-24_268-18del | |
| ENST00000326828.5:c.268-24_268-18del | ENSP00000315602.5:n.268-24_268-18del | |
| ENST00000348639.7:c.268-24_268-18del | ENSP00000267951.4:n.268-24_268-18del | |
| ENST00000559658.5:c.268-24_268-18del | ENSP00000452896.1:n.268-24_268-18del | |
| NM_000743.4:c.268-24_268-18del | NP_000734.2:n.268-24_268-18del | |
| NM_001166694.1:c.268-24_268-18del | NP_001160166.1:n.268-24_268-18del | |
| NR_046313.1:n.769-24_769-18del | ||
| XM_006720382.1:c.67-24_67-18del | XP_006720445.1:n.67-24_67-18del | |
| XM_011521173.1:c.187-24_187-18del | XP_011519475.1:n.187-24_187-18del | |
| XM_006720382.3:c.67-24_67-18del | XP_006720445.1:n.67-24_67-18del | |
| NM_000743.5:c.268-24_268-18del MANE Select | NP_000734.2:n.268-24_268-18del | |
| NM_001166694.2:c.268-24_268-18del | NP_001160166.1:n.268-24_268-18del | |
| NR_046313.2:n.470-24_470-18del |