Linked Data
gnomAD v4:
5-80675037-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80675037_80675038insG , CM000667.2:g.80675037_80675038insG | GRCh38 |
| NC_000005.9:g.79970856_79970857insG , CM000667.1:g.79970856_79970857insG | GRCh37 |
| NC_000005.8:g.80006612_80006613insG | NCBI36 |
| NG_016607.1:g.25563_25564insG | |
| NG_016607.2:g.25563_25564insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265081.7:c.1082_1083insG MANE Select | ENSP00000265081.6:p.Asp362Ter | |
| ENST00000658259.1:c.914_915insG | ENSP00000499617.1:p.Asp306Ter | |
| ENST00000667069.1:c.1082_1083insG | ENSP00000499502.1:p.Asp362Ter | |
| ENST00000670357.1:c.1082_1083insG | ENSP00000499791.1:p.Asp362Ter | |
| ENST00000265081.6:c.1082_1083insG | ENSP00000265081.6:p.Asp362Ter | |
| NM_002439.4:c.1082_1083insG | NP_002430.3:p.Asp362Ter | |
| NM_002439.5:c.1082_1083insG MANE Select | NP_002430.3:p.Asp362Ter |