Linked Data
dbSNP Id:
rs1567888166
gnomAD v2:
17-42429500-CG-C
gnomAD v4:
17-44352132-CG-C
MyVariant Identifiers:
chr17:g.42429501del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44352135del , CM000679.2:g.44352135del | GRCh38 |
| NC_000017.10:g.42429503del , CM000679.1:g.42429503del | GRCh37 |
| NC_000017.9:g.39785029del | NCBI36 |
| NG_007886.1:g.12013del , LRG_661:g.12013del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1300del MANE Select | ENSP00000053867.2:p.Ala434LeufsTer? | |
| ENST00000639447.1:c.1136+383del | ENSP00000492014.1:n.1136+383del | |
| ENST00000053867.7:c.1300del | ENSP00000053867.2:p.Ala434LeufsTer? | |
| ENST00000586443.1:c.741del | ||
| ENST00000589265.5:c.829del | ENSP00000467616.1:p.Ala277LeufsTer? | |
| NM_002087.3:c.1300del | NP_002078.1:p.Ala434LeufsTer? | |
| XM_005257253.1:c.1300del | XP_005257310.1:p.Ala434LeufsTer? | |
| XM_024450730.1:c.1300del | XP_024306498.1:p.Ala434LeufsTer? | |
| NM_002087.4:c.1300del MANE Select | NP_002078.1:p.Ala434LeufsTer? |