Linked Data
gnomAD v4:
1-1535440-GGGCCTGTGC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1535445_1535453del , CM000663.2:g.1535445_1535453del | GRCh38 |
| NC_000001.10:g.1470825_1470833del , CM000663.1:g.1470825_1470833del | GRCh37 |
| NC_000001.9:g.1460688_1460696del | NCBI36 |
| NG_041807.1:g.9912_9920del | |
| NG_053035.1:g.28303_28311del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378733.9:c.432_440del MANE Select | ENSP00000368007.4:p.His145_Pro147del | |
| ENST00000378733.8:c.432_440del | ENSP00000368007.4:p.His145_Pro147del | |
| ENST00000425828.1:c.432_440del | ENSP00000400311.1:p.His145_Pro147del | |
| NM_001114748.1:c.432_440del | NP_001108220.1:p.His145_Pro147del | |
| NM_001114748.2:c.432_440del MANE Select | NP_001108220.1:p.His145_Pro147del |