Linked Data
gnomAD v4:
9-137199448-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199454del , CM000671.2:g.137199454del | GRCh38 |
| NC_000009.11:g.140093906del , CM000671.1:g.140093906del | GRCh37 |
| NC_000009.10:g.139213727del | NCBI36 |
| NG_027801.1:g.6263del | |
| NG_027801.2:g.9745del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1263del MANE Select | ENSP00000387100.4:p.Phe422SerfsTer28 | |
| ENST00000333046.8:c.657del | ENSP00000327617.4:p.Phe220SerfsTer28 | |
| ENST00000409012.4:c.1263del | ENSP00000387100.4:p.Phe422SerfsTer28 | |
| ENST00000541945.1:n.90+4655del | ||
| NM_001128228.2:c.1263del | NP_001121700.2:p.Phe422SerfsTer28 | |
| NM_001128228.3:c.1263del MANE Select | NP_001121700.2:p.Phe422SerfsTer28 |