Linked Data
gnomAD v4:
5-146339558-A-AGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146339558_146339559insGC , CM000667.2:g.146339558_146339559insGC | GRCh38 |
| NC_000005.9:g.145719121_145719122insGC , CM000667.1:g.145719121_145719122insGC | GRCh37 |
| NC_000005.8:g.145699314_145699315insGC | NCBI36 |
| NG_011885.1:g.5535_5536insGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.131_132insGC MANE Select | ENSP00000495718.1:p.Asn44LysfsTer? | |
| ENST00000230732.4:c.131_132insGC | ENSP00000230732.4:p.Asn44LysfsTer? | |
| NM_002700.2:c.131_132insGC | NP_002691.1:p.Asn44LysfsTer? | |
| NM_002700.3:c.131_132insGC MANE Select | NP_002691.1:p.Asn44LysfsTer? |