Linked Data
dbSNP Id:
rs1564865033
gnomAD v2:
11-17408670-GTCC-G
gnomAD v4:
11-17387123-GTCC-G
MyVariant Identifiers:
chr11:g.17408671_17408673del (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387129_17387131del , CM000673.2:g.17387129_17387131del | GRCh38 |
| NC_000011.9:g.17408676_17408678del , CM000673.1:g.17408676_17408678del | GRCh37 |
| NC_000011.8:g.17365252_17365254del | NCBI36 |
| NG_012446.1:g.6534_6536del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.705_707del | ENSP00000508090.1:p.Glu235del | |
| ENST00000682764.1:c.705_707del | ENSP00000506780.1:p.Glu235del | |
| ENST00000339994.5:c.966_968del MANE Select | ENSP00000345708.4:p.Glu322del | |
| ENST00000339994.4:c.966_968del | ENSP00000345708.4:p.Glu322del | |
| ENST00000528731.1:c.705_707del | ENSP00000434755.1:p.Glu235del | |
| NM_000525.3:c.966_968del | NP_000516.3:p.Glu322del | |
| NM_001166290.1:c.705_707del | NP_001159762.1:p.Glu235del | |
| XM_006718226.2:c.705_707del | XP_006718289.1:p.Glu235del | |
| XR_930867.1:n.1124_1126del | ||
| XM_006718226.3:c.705_707del | XP_006718289.1:p.Glu235del | |
| XM_017017680.1:c.705_707del | XP_016873169.1:p.Glu235del | |
| NM_001166290.2:c.705_707del | NP_001159762.1:p.Glu235del | |
| NM_001377296.1:c.705_707del | NP_001364225.1:p.Glu235del | |
| NM_001377297.1:c.705_707del | NP_001364226.1:p.Glu235del | |
| NM_000525.4:c.966_968del MANE Select | NP_000516.3:p.Glu322del |