Linked Data
gnomAD v4:
5-135028840-AACG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135028845_135028847del , CM000667.2:g.135028845_135028847del | GRCh38 |
| NC_000005.9:g.134364535_134364537del , CM000667.1:g.134364535_134364537del | GRCh37 |
| NC_000005.8:g.134392434_134392436del | NCBI36 |
| NG_012114.1:g.10432_10434del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.881_883del MANE Select | ENSP00000265340.6:p.Ser294del | |
| ENST00000265340.11:c.881_883del | ENSP00000265340.6:p.Ser294del | |
| ENST00000506438.5:c.881_883del | ENSP00000427542.1:p.Ser294del | |
| NM_002653.4:c.881_883del | NP_002644.4:p.Ser294del | |
| NM_002653.5:c.881_883del MANE Select | NP_002644.4:p.Ser294del |