Linked Data
dbSNP Id:
rs63750040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225705_5225716del , CM000673.2:g.5225705_5225716del | GRCh38 |
| NC_000011.9:g.5246935_5246946del , CM000673.1:g.5246935_5246946del | GRCh37 |
| NC_000011.8:g.5203511_5203522del | NCBI36 |
| NG_000007.3:g.71900_71911del | |
| NG_059281.1:g.6356_6367del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.326_337del | ENSP00000494175.1:p.Asn109_Cys113delinsSer | |
| ENST00000335295.4:c.326_337del MANE Select | ENSP00000333994.3:p.Asn109_Cys113delinsSer | |
| ENST00000475226.1:n.258_269del | ||
| ENST00000633227.1:c.*142_*153del | ENSP00000488004.1:n.*142_*153del | |
| NM_000518.4:c.326_337del | NP_000509.1:p.Asn109_Cys113delinsSer | |
| NM_000518.5:c.326_337del MANE Select | NP_000509.1:p.Asn109_Cys113delinsSer |