Linked Data
dbSNP Id:
rs2071727432
gnomAD v3:
X-154764950-CAGA-C
gnomAD v4:
X-154764950-CAGA-C
COSMIC:
COSM5835917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154764957_154764959del , CM000685.2:g.154764957_154764959del | GRCh38 |
| NC_000023.10:g.153993232_153993234del , CM000685.1:g.153993232_153993234del | GRCh37 |
| NC_000023.9:g.153646426_153646428del | NCBI36 |
| NG_009780.1:g.7202_7204del , LRG_55:g.7202_7204del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413910.6:c.75_77del | ENSP00000400542.2:p.Glu25del | |
| ENST00000426673.6:c.75_77del | ENSP00000407253.3:p.Glu25del | |
| ENST00000696575.1:c.75_77del | ENSP00000512730.1:p.Glu25del | |
| ENST00000696576.1:n.177_179del | ||
| ENST00000696577.1:c.75_77del | ENSP00000512731.1:p.Glu25del | |
| ENST00000696578.1:c.75_77del | ENSP00000512732.1:p.Glu25del | |
| ENST00000696579.1:n.177_179del | ||
| ENST00000696580.1:c.75_77del | ENSP00000512733.1:p.Glu25del | |
| ENST00000696581.1:c.75_77del | ENSP00000512734.1:p.Glu25del | |
| ENST00000696582.1:c.75_77del | ENSP00000512735.1:p.Glu25del | |
| ENST00000696583.1:c.75_77del | ENSP00000512736.1:p.Glu25del | |
| ENST00000696584.1:n.122_124del | ||
| ENST00000696585.1:n.122_124del | ||
| ENST00000696586.1:n.122_124del | ||
| ENST00000696587.1:c.75_77del | ENSP00000512737.1:p.Glu25del | |
| ENST00000696588.1:c.-1012_-1010del | ENSP00000513251.1:n.-1012_-1010del | |
| ENST00000696627.1:c.75_77del | ENSP00000512764.1:p.Glu25del | |
| ENST00000696628.1:c.75_77del | ENSP00000512765.1:p.Glu25del | |
| ENST00000369550.10:c.75_77del MANE Select | ENSP00000358563.5:p.Glu25del | |
| ENST00000369550.9:c.75_77del | ENSP00000358563.5:p.Glu25del | |
| ENST00000413910.5:c.75_77del | ENSP00000400542.1:p.Glu25del | |
| ENST00000437719.5:c.31_33del | ||
| ENST00000452771.5:c.33_35del | ENSP00000407325.1:p.Glu11del | |
| ENST00000473552.1:n.128_130del | ||
| ENST00000475423.1:n.189_191del | ||
| ENST00000620277.4:c.75_77del | ENSP00000478387.1:p.Glu25del | |
| NM_001142463.2:c.75_77del | NP_001135935.1:p.Glu25del | |
| NM_001288747.1:c.75_77del | NP_001275676.1:p.Glu25del | |
| NM_001363.4:c.75_77del | NP_001354.1:p.Glu25del | |
| NR_110021.1:n.299_301del | ||
| NR_110022.1:n.299_301del | ||
| NR_110023.1:n.299_301del | ||
| NM_001363.5:c.75_77del MANE Select | NP_001354.1:p.Glu25del | |
| NM_001142463.3:c.75_77del | NP_001135935.1:p.Glu25del | |
| NR_110021.2:n.177_179del | ||
| NR_110022.2:n.177_179del | ||
| NR_110023.2:n.177_179del | ||
| NM_001288747.2:c.75_77del | NP_001275676.1:p.Glu25del |