Linked Data
gnomAD v4:
5-177992771-G-GGGGGGGCCCCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177992771_177992772insGGGGGGCCCCGGC , CM000667.2:g.177992771_177992772insGGGGGGCCCCGGC | GRCh38 |
| NC_000005.9:g.177419772_177419773insGGGGGGCCCCGGC , CM000667.1:g.177419772_177419773insGGGGGGCCCCGGC | GRCh37 |
| NC_000005.8:g.177352378_177352379insGGGGGGCCCCGGC | NCBI36 |
| NG_015889.1:g.8471_8472insGCCGGGGCCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308304.2:c.618_619insGCCGGGGCCCCCC MANE Select | ENSP00000311290.2:p.Pro207AlafsTer18 | |
| NM_006261.4:c.618_619insGCCGGGGCCCCCC | NP_006252.3:p.Pro207AlafsTer18 | |
| NM_006261.5:c.618_619insGCCGGGGCCCCCC MANE Select | NP_006252.4:p.Pro207AlafsTer18 |