Linked Data
ClinVar Variation Id:
1450021
ClinVar RCV Id:
RCV002004742
dbSNP Id:
rs761305394
ExAC:
7:116399423 GT / G
gnomAD v2:
7-116399423-GT-G
gnomAD v4:
7-116759369-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116759373del , CM000669.2:g.116759373del | GRCh38 |
| NC_000007.13:g.116399427del , CM000669.1:g.116399427del | GRCh37 |
| NC_000007.12:g.116186663del | NCBI36 |
| NG_008996.1:g.91969del , LRG_662:g.91969del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422097.2:c.2265-18del | ENSP00000398776.2:n.2265-18del | |
| ENST00000436117.3:c.2264+753del | ENSP00000410980.2:n.2264+753del | |
| ENST00000318493.11:c.2301del | ENSP00000317272.6:p.Leu768TyrfsTer11 | |
| ENST00000397752.8:c.2265-18del MANE Select | ENSP00000380860.3:n.2265-18del | |
| ENST00000318493.10:c.2301del | ENSP00000317272.6:p.Leu768TyrfsTer11 | |
| ENST00000397752.7:c.2265-18del | ENSP00000380860.3:n.2265-18del | |
| ENST00000422097.1:c.105-18del | ENSP00000398776.1:n.105-18del | |
| ENST00000436117.2:c.2264+753del | ENSP00000410980.2:n.2264+753del | |
| NM_000245.2:c.2265-18del | NP_000236.2:n.2265-18del | |
| NM_001127500.1:c.2301del , LRG_662t1:c.2301del | NP_001120972.1:p.Leu768TyrfsTer11 | |
| XM_006715990.2:c.975-18del | XP_006716053.1:n.975-18del | |
| XM_006715991.2:c.975-18del | XP_006716054.1:n.975-18del | |
| XM_011516223.1:c.2322-18del | XP_011514525.1:n.2322-18del | |
| NM_000245.3:c.2265-18del | NP_000236.2:n.2265-18del | |
| NM_001127500.2:c.2301del | NP_001120972.1:p.Leu768TyrfsTer11 | |
| NM_001324401.1:c.2265-18del | NP_001311330.1:n.2265-18del | |
| NM_001324402.1:c.975-18del | NP_001311331.1:n.975-18del | |
| XR_001744772.1:n.2495+753del | ||
| NM_001127500.3:c.2301del | NP_001120972.1:p.Leu768TyrfsTer11 | |
| NM_000245.4:c.2265-18del MANE Select | NP_000236.2:n.2265-18del | |
| NM_001324401.2:c.2265-18del | NP_001311330.1:n.2265-18del | |
| NM_001324402.2:c.975-18del | NP_001311331.1:n.975-18del | |
| NM_001324401.3:c.2265-18del | NP_001311330.1:n.2265-18del |