Linked Data
gnomAD v4:
10-94775326-CCAGTGT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775330_94775335del , CM000672.2:g.94775330_94775335del | GRCh38 |
| NC_000010.10:g.96535087_96535092del , CM000672.1:g.96535087_96535092del | GRCh37 |
| NC_000010.9:g.96525077_96525082del | NCBI36 |
| NG_008384.2:g.17625_17630del | |
| NG_008384.3:g.17650_17655del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.332-60_332-55del MANE Select | ENSP00000360372.3:n.332-60_332-55del | |
| ENST00000645461.1:n.1385-60_1385-55del | ||
| ENST00000371321.7:c.332-60_332-55del | ENSP00000360372.3:n.332-60_332-55del | |
| ENST00000464755.1:c.1095-60_1095-55del | ENSP00000483243.1:n.1095-60_1095-55del | |
| ENST00000480405.2:c.332-60_332-55del | ENSP00000483847.1:n.332-60_332-55del | |
| NM_000769.2:c.332-60_332-55del | NP_000760.1:n.332-60_332-55del | |
| NM_000769.4:c.332-60_332-55del MANE Select | NP_000760.1:n.332-60_332-55del |