Linked Data
dbSNP Id:
rs1408284021
gnomAD v2:
11-2322758-CCT-C
gnomAD v3:
11-2301528-CCT-C
gnomAD v4:
11-2301528-CCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2301529_2301530del , CM000673.2:g.2301529_2301530del | GRCh38 |
| NC_000011.9:g.2322759_2322760del , CM000673.1:g.2322759_2322760del | GRCh37 |
| NC_000011.8:g.2279335_2279336del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381153.8:c.53+226_53+227del (C11orf21) MANE Select | ENSP00000370545.4:n.53+226_53+227del | |
| ENST00000381153.7:c.53+226_53+227del (C11orf21) | ENSP00000370545.3:n.53+226_53+227del | |
| ENST00000456145.2:c.106+226_106+227del (C11orf21) | ENSP00000406541.2:n.106+226_106+227del | |
| ENST00000470369.1:n.343_344del (C11orf21) | ||
| ENST00000495467.1:n.168+1352_168+1353del (C11orf21) | ||
| NM_001142946.1:c.106+226_106+227del (C11orf21) | NP_001136418.1:n.106+226_106+227del | |
| NR_024621.1:n.158+226_158+227del (C11orf21) | ||
| XM_011520034.1:c.106+226_106+227del (C11orf21) | XP_011518336.1:n.106+226_106+227del | |
| NM_001142946.2:c.106+226_106+227del (C11orf21) | NP_001136418.1:n.106+226_106+227del | |
| NM_001329958.1:c.53+226_53+227del (C11orf21) | NP_001316887.1:n.53+226_53+227del | |
| NR_138249.1:n.168+1352_168+1353del (C11orf21) | ||
| XM_011520034.2:c.106+226_106+227del (C11orf21) | XP_011518336.1:n.106+226_106+227del | |
| XM_017017067.1:c.-24-1315_-24-1314del (TSPAN32) | XP_016872556.1:n.-24-1315_-24-1314del | |
| NM_001142946.3:c.106+226_106+227del (C11orf21) | NP_001136418.1:n.106+226_106+227del | |
| NM_001329958.2:c.53+226_53+227del (C11orf21) MANE Select | NP_001316887.1:n.53+226_53+227del | |
| NR_138249.2:n.259+1352_259+1353del (C11orf21) |