Linked Data
gnomAD v4:
5-177992771-G-GGGGGGGGGGGCCCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992771_177992772insGGGGGGGGGGCCCGGC , CM000667.2:g.177992771_177992772insGGGGGGGGGGCCCGGC | GRCh38 |
| NC_000005.9:g.177419772_177419773insGGGGGGGGGGCCCGGC , CM000667.1:g.177419772_177419773insGGGGGGGGGGCCCGGC | GRCh37 |
| NC_000005.8:g.177352378_177352379insGGGGGGGGGGCCCGGC | NCBI36 |
| NG_015889.1:g.8471_8472insGCCGGGCCCCCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.618_619insGCCGGGCCCCCCCCCC MANE Select | ENSP00000311290.2:p.Pro207AlafsTer19 | |
| NM_006261.4:c.618_619insGCCGGGCCCCCCCCCC | NP_006252.3:p.Pro207AlafsTer19 | |
| NM_006261.5:c.618_619insGCCGGGCCCCCCCCCC MANE Select | NP_006252.4:p.Pro207AlafsTer19 |