Linked Data
gnomAD v4:
5-177992920-TAAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992923_177992925del , CM000667.2:g.177992923_177992925del | GRCh38 |
| NC_000005.9:g.177419924_177419926del , CM000667.1:g.177419924_177419926del | GRCh37 |
| NC_000005.8:g.177352530_177352532del | NCBI36 |
| NG_015889.1:g.8320_8322del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.467_469del MANE Select | ENSP00000311290.2:p.Ser156del | |
| NM_006261.4:c.467_469del | NP_006252.3:p.Ser156del | |
| NM_006261.5:c.467_469del MANE Select | NP_006252.4:p.Ser156del |