Linked Data
dbSNP Id:
rs1392922111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940296del , CM000678.2:g.67940296del | GRCh38 |
| NC_000016.9:g.67974199del , CM000678.1:g.67974199del | GRCh37 |
| NC_000016.8:g.66531700del | NCBI36 |
| NG_009778.1:g.8819del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.933del MANE Select | ENSP00000264005.5:p.Phe311LeufsTer? | |
| ENST00000264005.9:c.933del | ENSP00000264005.5:p.Phe311LeufsTer? | |
| ENST00000570369.5:c.156-220del | ||
| ENST00000570980.1:c.717del | ENSP00000464651.1:p.Phe239LeufsTer? | |
| ENST00000573538.5:c.671del | ENSP00000463220.1:n.671del | |
| NM_000229.1:c.933del | NP_000220.1:p.Phe311LeufsTer? | |
| NM_000229.2:c.933del MANE Select | NP_000220.1:p.Phe311LeufsTer? |