Linked Data
dbSNP Id:
rs1378781408
gnomAD v2:
17-42429112-TACCTGCTGC-T
gnomAD v3:
17-44351744-TACCTGCTGC-T
gnomAD v4:
17-44351744-TACCTGCTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351745_44351753del , CM000679.2:g.44351745_44351753del | GRCh38 |
| NC_000017.10:g.42429113_42429121del , CM000679.1:g.42429113_42429121del | GRCh37 |
| NC_000017.9:g.39784639_39784647del | NCBI36 |
| NG_007886.1:g.11623_11631del , LRG_661:g.11623_11631del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1129_1137del MANE Select | ENSP00000053867.2:p.Thr377_Cys379del | |
| ENST00000639447.1:c.1129_1136+1del | ||
| ENST00000053867.7:c.1129_1137del | ENSP00000053867.2:p.Thr377_Cys379del | |
| ENST00000586443.1:c.570_578del | ||
| ENST00000589265.5:c.658_666del | ENSP00000467616.1:p.Thr220_Cys222del | |
| ENST00000589923.1:n.387_395del | ||
| NM_002087.3:c.1129_1137del | NP_002078.1:p.Thr377_Cys379del | |
| XM_005257253.1:c.1129_1137del | XP_005257310.1:p.Thr377_Cys379del | |
| XM_024450730.1:c.1129_1137del | XP_024306498.1:p.Thr377_Cys379del | |
| NM_002087.4:c.1129_1137del MANE Select | NP_002078.1:p.Thr377_Cys379del |