Linked Data
dbSNP Id:
rs1846773768
gnomAD v3:
11-6319351-CAGGGCCTTTCCGGCCCGAA-C
gnomAD v4:
11-6319351-CAGGGCCTTTCCGGCCCGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319358_6319376del , CM000673.2:g.6319358_6319376del | GRCh38 |
| NC_000011.9:g.6340588_6340606del , CM000673.1:g.6340588_6340606del | GRCh37 |
| NC_000011.8:g.6297164_6297182del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.579_597del MANE Select | ENSP00000307292.3:p.Ser194GlnfsTer? | |
| ENST00000303927.3:c.579_597del | ENSP00000307292.3:p.Ser194GlnfsTer? | |
| ENST00000524852.1:n.365_383del | ||
| ENST00000530979.1:c.675_693del | ENSP00000432047.1:p.Ser226GlnfsTer? | |
| ENST00000532354.1:n.601_619del | ||
| NM_145040.2:c.579_597del | NP_659477.2:p.Ser194GlnfsTer? | |
| XR_930997.1:n.720+1138_720+1156del | ||
| XR_242848.4:n.218_236del | ||
| NM_145040.3:c.579_597del MANE Select | NP_659477.2:p.Ser194GlnfsTer? |