Linked Data
ClinVar Variation Id:
1629857
ClinVar RCV Id:
RCV002118631
dbSNP Id:
rs1336885108
gnomAD v2:
16-4847854-AGAGGGTCCCTGAG-A
gnomAD v3:
16-4797853-AGAGGGTCCCTGAG-A
gnomAD v4:
16-4797853-AGAGGGTCCCTGAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797863_4797875del , CM000678.2:g.4797863_4797875del | GRCh38 |
| NC_000016.9:g.4847864_4847876del , CM000678.1:g.4847864_4847876del | GRCh37 |
| NC_000016.8:g.4787865_4787877del | NCBI36 |
| NG_032174.1:g.10085_10097del , LRG_455:g.10085_10097del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.696-26_696-14del MANE Select | ENSP00000322832.6:n.696-26_696-14del | |
| ENST00000322048.11:c.696-26_696-14del | ENSP00000322832.5:n.696-26_696-14del | |
| ENST00000586153.1:c.342-30_342-18del | ENSP00000464699.1:n.342-30_342-18del | |
| ENST00000586336.5:n.795-26_795-14del | ||
| ENST00000586504.5:c.426-26_426-14del | ||
| ENST00000587377.5:c.*16-26_*16-14del | ENSP00000468343.1:n.*16-26_*16-14del | |
| ENST00000587711.5:c.381-26_381-14del | ENSP00000467459.1:n.381-26_381-14del | |
| ENST00000587843.5:c.*434-26_*434-14del | ENSP00000465970.1:n.*434-26_*434-14del | |
| ENST00000588201.5:c.*687-26_*687-14del | ENSP00000466529.1:n.*687-26_*687-14del | |
| ENST00000589543.5:n.653-26_653-14del | ||
| ENST00000591292.5:n.2025-26_2025-14del | ||
| ENST00000591392.5:c.624-26_624-14del | ENSP00000467509.1:n.624-26_624-14del | |
| ENST00000592019.1:c.77-51_77-39del | ||
| NM_024589.2:c.696-26_696-14del , LRG_455t1:c.696-26_696-14del | NP_078865.1:n.696-26_696-14del | |
| NR_046480.1:n.1020-26_1020-14del | ||
| XM_006720947.2:c.696-5_703del | ||
| XM_006720948.2:c.426-5_433del | ||
| XM_006720947.4:c.696-5_703del | ||
| XM_006720948.4:c.426-5_433del | ||
| NM_024589.3:c.696-26_696-14del MANE Select | NP_078865.1:n.696-26_696-14del | |
| NR_046480.2:n.703-26_703-14del |