Linked Data
dbSNP Id:
rs1755655920
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320825_119320826insCTTTACCACGTTAATACCCATTT , CM000666.2:g.119320825_119320826insCTTTACCACGTTAATACCCATTT | GRCh38 |
| NC_000004.11:g.120241980_120241981insCTTTACCACGTTAATACCCATTT , CM000666.1:g.120241980_120241981insCTTTACCACGTTAATACCCATTT | GRCh37 |
| NC_000004.10:g.120461428_120461429insCTTTACCACGTTAATACCCATTT | NCBI36 |
| NG_011444.1:g.6337_6338insAATGGGTATTAACGTGGTAAAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.85_86insAATGGGTATTAACGTGGTAAAGA MANE Select | ENSP00000274024.3:p.Arg29LysfsTer7 | |
| ENST00000274024.3:c.85_86insAATGGGTATTAACGTGGTAAAGA | ENSP00000274024.3:p.Arg29LysfsTer7 | |
| NM_000134.3:c.85_86insAATGGGTATTAACGTGGTAAAGA | NP_000125.2:p.Arg29LysfsTer7 | |
| NM_000134.4:c.85_86insAATGGGTATTAACGTGGTAAAGA MANE Select | NP_000125.2:p.Arg29LysfsTer7 |