Linked Data
dbSNP Id:
rs1586045978
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739673_86739674insAAATATTTGTC , CM000670.2:g.86739673_86739674insAAATATTTGTC | GRCh38 |
| NC_000008.10:g.87751901_87751902insAAATATTTGTC , CM000670.1:g.87751901_87751902insAAATATTTGTC | GRCh37 |
| NC_000008.9:g.87821017_87821018insAAATATTTGTC | NCBI36 |
| NG_016980.1:g.9002_9003insGACAAATATTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.192_193insGACAAATATTT MANE Select | ENSP00000316605.5:p.Pro65AspfsTer22 | |
| ENST00000681746.1:c.192_193insGACAAATATTT | ENSP00000505959.1:p.Pro65AspfsTer22 | |
| ENST00000320005.5:c.192_193insGACAAATATTT | ENSP00000316605.5:p.Pro65AspfsTer22 | |
| ENST00000519777.1:n.174_175insGACAAATATTT | ||
| NM_019098.4:c.192_193insGACAAATATTT | NP_061971.3:p.Pro65AspfsTer22 | |
| NM_019098.5:c.192_193insGACAAATATTT MANE Select | NP_061971.3:p.Pro65AspfsTer22 |