Linked Data
dbSNP Id:
rs759558872
ExAC:
10:96534939 GCC / G
gnomAD v2:
10-96534939-GCC-G
gnomAD v4:
10-94775182-GCC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775183_94775184del , CM000672.2:g.94775183_94775184del | GRCh38 |
| NC_000010.10:g.96534940_96534941del , CM000672.1:g.96534940_96534941del | GRCh37 |
| NC_000010.9:g.96524930_96524931del | NCBI36 |
| NG_008384.2:g.17478_17479del | |
| NG_008384.3:g.17503_17504del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.294_295del MANE Select | ENSP00000360372.3:p.His99PhefsTer5 | |
| ENST00000645461.1:n.1347_1348del | ||
| ENST00000371321.7:c.294_295del | ENSP00000360372.3:p.His99PhefsTer5 | |
| ENST00000464755.1:c.1057_1058del | ENSP00000483243.1:n.1057_1058del | |
| ENST00000480405.2:c.294_295del | ENSP00000483847.1:p.His99PhefsTer5 | |
| NM_000769.2:c.294_295del | NP_000760.1:p.His99PhefsTer5 | |
| NM_000769.4:c.294_295del MANE Select | NP_000760.1:p.His99PhefsTer5 |