Linked Data
gnomAD v4:
10-123034481-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.123034484del , CM000672.2:g.123034484del | GRCh38 |
| NC_000010.10:g.124794000del , CM000672.1:g.124794000del | GRCh37 |
| NC_000010.9:g.124783990del | NCBI36 |
| NG_008003.1:g.30572del , LRG_451:g.30572del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358776.7:c.171del MANE Select | ENSP00000357873.3:p.Phe57LeufsTer6 | |
| ENST00000358776.6:c.171del | ENSP00000357873.3:p.Phe57LeufsTer6 | |
| ENST00000368869.8:c.-35del | ENSP00000357862.4:n.-35del | |
| ENST00000411816.2:n.188del | ||
| NM_001609.3:c.171del , LRG_451t1:c.171del | NP_001600.1:p.Phe57LeufsTer6 | |
| NM_001330174.1:c.-35del | NP_001317103.1:n.-35del | |
| NM_001330174.2:c.-35del | NP_001317103.1:n.-35del | |
| NM_001609.4:c.171del MANE Select | NP_001600.1:p.Phe57LeufsTer6 | |
| NM_001330174.3:c.-35del | NP_001317103.1:n.-35del |