Linked Data
dbSNP Id:
rs794726920
gnomAD v3:
14-28767473-C-CGCCGCCGCCGCCGCAGCAGCAGCA
gnomAD v4:
14-28767473-C-CGCCGCCGCCGCCGCAGCAGCAGCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.28767488_28767511dup , CM000676.2:g.28767488_28767511dup | GRCh38 |
| NC_000014.8:g.29236694_29236717dup , CM000676.1:g.29236694_29236717dup | GRCh37 |
| NC_000014.7:g.28306445_28306468dup | NCBI36 |
| NG_009367.1:g.5408_5431dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706482.1:c.209_232dup | ENSP00000516406.1:p.Pro77_Pro78insGlnGlnGlnGlnProProProPro | |
| ENST00000313071.7:c.209_232dup MANE Select | ENSP00000339004.3:p.Pro77_Pro78insGlnGlnGlnGlnProProProPro | |
| ENST00000313071.6:c.209_232dup | ENSP00000339004.3:p.Pro77_Pro78insGlnGlnGlnGlnProProProPro | |
| NM_005249.4:c.209_232dup | NP_005240.3:p.Pro77_Pro78insGlnGlnGlnGlnProProProPro | |
| NM_005249.5:c.209_232dup MANE Select | NP_005240.3:p.Pro77_Pro78insGlnGlnGlnGlnProProProPro |