Linked Data
gnomAD v4:
10-30313610-CATG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313611_30313613del , CM000672.2:g.30313611_30313613del | GRCh38 |
| NC_000010.10:g.30602540_30602542del , CM000672.1:g.30602540_30602542del | GRCh37 |
| NC_000010.9:g.30642546_30642548del | NCBI36 |
| NG_028096.1:g.40726_40728del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1745_1747del MANE Select | ENSP00000263063.3:p.Thr582_Ter583delinsArg | |
| ENST00000263063.8:c.1745_1747del | ENSP00000263063.3:p.Thr582_Ter583delinsArg | |
| ENST00000488290.5:n.3500_3502del | ||
| NM_018109.3:c.1745_1747del | NP_060579.3:p.Thr582_Ter583delinsArg | |
| NM_018109.4:c.1745_1747del MANE Select | NP_060579.3:p.Thr582_Ter583delinsArg |