Linked Data
dbSNP Id:
rs1185711838
MyVariant Identifiers:
chr11:g.112099395_112099396insGTTGT (hg19)
chr11:g.112228672_112228673insGTTGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112228673_112228674insTTGTG , CM000673.2:g.112228673_112228674insTTGTG | GRCh38 |
| NC_000011.9:g.112099396_112099397insTTGTG , CM000673.1:g.112099396_112099397insTTGTG | GRCh37 |
| NC_000011.8:g.111604606_111604607insTTGTG | NCBI36 |
| NG_008743.1:g.7309_7310insTTGTG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280362.8:c.163_163+1insTTGTG MANE Select | ENSP00000280362.3:p.Val57LeufsTer3 | |
| ENST00000280362.7:c.163_163+1insTTGTG | ENSP00000280362.3:p.Val57LeufsTer3 | |
| ENST00000524931.1:c.-42_-42+1insTTGTG | ENSP00000434688.1:n.-42_-42+1insTTGTG | |
| ENST00000525645.1:n.238_239insTTGTG | ||
| ENST00000525803.1:c.163_163+1insTTGTG | ENSP00000431750.1:p.Gly55ValfsTer? | |
| ENST00000528679.5:c.163_163+1insTTGTG | ENSP00000435895.1:p.Asp55ValfsTer? | |
| ENST00000531673.5:c.163_163+1insTTGTG | ENSP00000433469.1:p.Asp55ValfsTer? | |
| NM_000317.2:c.163_163+1insTTGTG | NP_000308.1:p.Val57LeufsTer3 | |
| NM_000317.3:c.163_163+1insTTGTG MANE Select | NP_000308.1:p.Val57LeufsTer3 |