Linked Data
gnomAD v4:
11-116833053-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116833055del , CM000673.2:g.116833055del | GRCh38 |
| NC_000011.9:g.116703771del , CM000673.1:g.116703771del | GRCh37 |
| NC_000011.8:g.116208981del | NCBI36 |
| NG_008949.1:g.8148del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.*171del MANE Select | ENSP00000227667.2:n.*171del | |
| ENST00000227667.7:c.*171del | ENSP00000227667.2:n.*171del | |
| ENST00000375345.3:c.*171del | ENSP00000364494.1:n.*171del | |
| ENST00000630701.1:c.525del | ENSP00000486182.1:n.525del | |
| NM_000040.1:c.*171del | NP_000031.1:n.*171del | |
| NM_000040.2:c.*171del | NP_000031.1:n.*171del | |
| NM_000040.3:c.*171del MANE Select | NP_000031.1:n.*171del |