Linked Data
gnomAD v4:
10-94775454-GAATTTTGGGATGGGGAA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775455_94775471del , CM000672.2:g.94775455_94775471del | GRCh38 |
| NC_000010.10:g.96535212_96535228del , CM000672.1:g.96535212_96535228del | GRCh37 |
| NC_000010.9:g.96525202_96525218del | NCBI36 |
| NG_008384.2:g.17750_17766del | |
| NG_008384.3:g.17775_17791del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.397_413del MANE Select | ENSP00000360372.3:p.Asn133GlufsTer4 | |
| ENST00000645461.1:n.1450_1466del | ||
| ENST00000371321.7:c.397_413del | ENSP00000360372.3:p.Asn133GlufsTer4 | |
| ENST00000464755.1:c.1160_1176del | ENSP00000483243.1:n.1160_1176del | |
| ENST00000480405.2:c.397_413del | ENSP00000483847.1:p.Asn133GlufsTer4 | |
| NM_000769.2:c.397_413del | NP_000760.1:p.Asn133GlufsTer4 | |
| NM_000769.4:c.397_413del MANE Select | NP_000760.1:p.Asn133GlufsTer4 |