Linked Data
dbSNP Id:
rs1425583689
gnomAD v2:
4-69512851-TGGCAAGC-T
gnomAD v4:
4-68647133-TGGCAAGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68647134_68647140del , CM000666.2:g.68647134_68647140del | GRCh38 |
| NC_000004.11:g.69512852_69512858del , CM000666.1:g.69512852_69512858del | GRCh37 |
| NC_000004.10:g.69195447_69195453del | NCBI36 |
| NG_052676.1:g.28637_28643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.1557_1563del MANE Select | ENSP00000341045.5:p.Leu520LysfsTer20 | |
| ENST00000338206.5:c.1557_1563del | ENSP00000341045.5:p.Leu520LysfsTer20 | |
| ENST00000616841.4:c.1557_1563del | ENSP00000482004.1:p.Leu520LysfsTer20 | |
| NM_001076.3:c.1557_1563del | NP_001067.2:p.Leu520LysfsTer20 | |
| NM_001076.4:c.1557_1563del MANE Select | NP_001067.2:p.Leu520LysfsTer20 |