Linked Data
ClinVar Variation Id:
30924
ClinVar RCV Id:
RCV000023912
dbSNP Id:
rs397515391
gnomAD v4:
17-28405909-CGG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28405910_28405911del , CM000679.2:g.28405910_28405911del | GRCh38 |
| NC_000017.10:g.26732928_26732929del , CM000679.1:g.26732928_26732929del | GRCh37 |
| NC_000017.9:g.23757055_23757056del | NCBI36 |
| NG_013306.1:g.5300_5301del , LRG_183:g.5300_5301del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.204_205del MANE Select | ENSP00000480703.1:p.Asn68LysfsTer? | |
| ENST00000581516.1:c.-19_-18del | ENSP00000462942.1:n.-19_-18del | |
| ENST00000582590.1:n.258_259del | ||
| ENST00000584426.1:c.-36-443_-36-442del | ENSP00000467416.1:n.-36-443_-36-442del | |
| ENST00000584995.5:c.-19_-18del | ENSP00000464190.1:n.-19_-18del | |
| ENST00000612814.4:c.204_205del | ENSP00000480703.1:p.Asn68LysfsTer? | |
| ENST00000618626.1:c.204_205del | ENSP00000483652.1:p.Asn68LysfsTer? | |
| NM_001242366.2:c.204_205del | NP_001229295.1:p.Asn68LysfsTer? | |
| NM_080669.5:c.204_205del | NP_542400.2:p.Asn68LysfsTer? | |
| XM_005277786.2:c.204_205del | XP_005277843.1:p.Asn68LysfsTer? | |
| XR_934643.1:n.89+459_89+460del | ||
| XM_005277786.3:c.204_205del | XP_005277843.1:p.Asn68LysfsTer? | |
| XM_017024110.1:c.-19_-18del | XP_016879599.1:n.-19_-18del | |
| NM_080669.6:c.204_205del MANE Select | NP_542400.2:p.Asn68LysfsTer? | |
| NM_001242366.3:c.204_205del | NP_001229295.1:p.Asn68LysfsTer? |