Linked Data
gnomAD v4:
1-1535456-CGGCCCAGCTCCCGCA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535460_1535474del , CM000663.2:g.1535460_1535474del | GRCh38 |
| NC_000001.10:g.1470840_1470854del , CM000663.1:g.1470840_1470854del | GRCh37 |
| NC_000001.9:g.1460703_1460717del | NCBI36 |
| NG_041807.1:g.9890_9904del | |
| NG_053035.1:g.28318_28332del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.410_424del MANE Select | ENSP00000368007.4:p.Leu137_Gly141del | |
| ENST00000378733.8:c.410_424del | ENSP00000368007.4:p.Leu137_Gly141del | |
| ENST00000425828.1:c.410_424del | ENSP00000400311.1:p.Leu137_Gly141del | |
| NM_001114748.1:c.410_424del | NP_001108220.1:p.Leu137_Gly141del | |
| NM_001114748.2:c.410_424del MANE Select | NP_001108220.1:p.Leu137_Gly141del |