Linked Data
dbSNP Id:
rs267608188
MyVariant Identifiers:
chr8:g.77895577_77895581del (hg19)
chr8:g.76983342_76983346del (hg38)
chr8:g.76983341_76983345del (hg38)
PubMed:
PMID:17041890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.76983346_76983350del , CM000670.2:g.76983346_76983350del | GRCh38 |
| NC_000008.10:g.77895582_77895586del , CM000670.1:g.77895582_77895586del | GRCh37 |
| NC_000008.9:g.78058137_78058141del | NCBI36 |
| NG_008371.1:g.21944_21948del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000357039.9:c.834_838del MANE Select | ENSP00000349543.4:p.Phe278LeufsTer3 | |
| ENST00000357039.8:c.834_838del | ENSP00000349543.4:p.Phe278LeufsTer3 | |
| ENST00000520103.5:c.834_838del | ENSP00000428590.1:p.Phe278LeufsTer3 | |
| ENST00000522527.5:c.834_838del | ENSP00000428638.1:p.Phe278LeufsTer3 | |
| NM_000318.2:c.834_838del | NP_000309.1:p.Phe278LeufsTer3 | |
| NM_001079867.1:c.834_838del | NP_001073336.1:p.Phe278LeufsTer3 | |
| NM_001172086.1:c.834_838del | NP_001165557.1:p.Phe278LeufsTer3 | |
| NM_001172087.1:c.834_838del | NP_001165558.1:p.Phe278LeufsTer3 | |
| NM_000318.3:c.834_838del MANE Select | NP_000309.2:p.Phe278LeufsTer3 | |
| NM_001079867.2:c.834_838del | NP_001073336.2:p.Phe278LeufsTer3 | |
| NM_001172086.2:c.834_838del | NP_001165557.2:p.Phe278LeufsTer3 | |
| NM_001172087.2:c.834_838del | NP_001165558.2:p.Phe278LeufsTer3 |