Linked Data
gnomAD v4:
1-154571702-CGTGCCG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.154571703_154571708del , CM000663.2:g.154571703_154571708del | GRCh38 |
| NC_000001.10:g.154544179_154544184del , CM000663.1:g.154544179_154544184del | GRCh37 |
| NC_000001.9:g.152810803_152810808del | NCBI36 |
| NG_008027.1:g.8923_8928del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368476.4:c.880_885del MANE Select | ENSP00000357461.3:p.Val294_Pro295del | |
| ENST00000636034.1:c.880_885del | ENSP00000489703.1:p.Val294_Pro295del | |
| ENST00000637900.1:c.886_891del | ENSP00000490474.1:p.Val296_Pro297del | |
| ENST00000368476.3:c.880_885del | ENSP00000357461.3:p.Val294_Pro295del | |
| NM_000748.2:c.880_885del | NP_000739.1:p.Val294_Pro295del | |
| XM_017000180.2:c.370_375del | XP_016855669.1:p.Val124_Pro125del | |
| XR_001736952.2:n.1132_1137del | ||
| NM_000748.3:c.880_885del MANE Select | NP_000739.1:p.Val294_Pro295del |