Linked Data
dbSNP Id:
rs1731925528
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67754171_67754174del , CM000666.2:g.67754171_67754174del | GRCh38 |
| NC_000004.11:g.68619889_68619892del , CM000666.1:g.68619889_68619892del | GRCh37 |
| NC_000004.10:g.68302484_68302487del | NCBI36 |
| NG_009293.1:g.6918_6921del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.167_170del MANE Select | ENSP00000226413.5:p.Phe56CysfsTer2 | |
| ENST00000226413.4:c.167_170del | ENSP00000226413.4:p.Phe56CysfsTer2 | |
| ENST00000420975.2:c.167_170del | ENSP00000397561.2:p.Phe56CysfsTer2 | |
| NM_000406.2:c.167_170del | NP_000397.1:p.Phe56CysfsTer2 | |
| NM_001012763.1:c.167_170del | NP_001012781.1:p.Phe56CysfsTer2 | |
| NM_000406.3:c.167_170del MANE Select | NP_000397.1:p.Phe56CysfsTer2 | |
| NM_001012763.2:c.167_170del | NP_001012781.1:p.Phe56CysfsTer2 |