Linked Data
dbSNP Id:
rs747300488
gnomAD v2:
19-49206414-TGCAATAGGCC-T
gnomAD v4:
19-48703157-TGCAATAGGCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48703160_48703169del , CM000681.2:g.48703160_48703169del | GRCh38 |
| NC_000019.9:g.49206417_49206426del , CM000681.1:g.49206417_49206426del | GRCh37 |
| NC_000019.8:g.53898229_53898238del | NCBI36 |
| NG_007511.1:g.12190_12199del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425340.3:c.204_213del MANE Select | ENSP00000387498.2:p.Ile69TrpfsTer17 | |
| ENST00000522966.2:c.204_213del | ENSP00000430227.2:p.Ile69TrpfsTer17 | |
| ENST00000391876.5:c.204_213del | ENSP00000375748.4:p.Ile69TrpfsTer17 | |
| ENST00000425340.2:c.204_213del | ENSP00000387498.2:p.Ile69TrpfsTer17 | |
| ENST00000522966.1:c.204_213del | ENSP00000430227.1:p.Ile69TrpfsTer17 | |
| NM_000511.5:c.204_213del | NP_000502.4:p.Ile69TrpfsTer17 | |
| NM_001097638.2:c.204_213del | NP_001091107.1:p.Ile69TrpfsTer17 | |
| NR_131188.1:n.682_691del | ||
| NM_000511.6:c.204_213del MANE Select | NP_000502.4:p.Ile69TrpfsTer17 | |
| NM_001097638.3:c.204_213del | NP_001091107.1:p.Ile69TrpfsTer17 |