Linked Data
ClinVar Variation Id:
2920776
dbSNP Id:
rs544570668
ExAC:
1:6529189 TCC / T
gnomAD v2:
1-6529189-TCC-T
gnomAD v3:
1-6469129-TCC-T
gnomAD v4:
1-6469129-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.6469130_6469131del , CM000663.2:g.6469130_6469131del | GRCh38 |
| NC_000001.10:g.6529190_6529191del , CM000663.1:g.6529190_6529191del | GRCh37 |
| NC_000001.9:g.6451777_6451778del | NCBI36 |
| NG_007978.1:g.55879_55880del , LRG_262:g.55879_55880del | |
| NG_029910.1:g.2065_2066del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340850.10:c.2160_2161del | ENSP00000344570.5:p.Glu721GlyfsTer? | |
| ENST00000377728.8:c.2160_2161del MANE Select | ENSP00000366957.3:p.Glu721GlyfsTer? | |
| ENST00000377740.5:c.2160_2161del | ENSP00000366969.4:p.Glu721GlyfsTer? | |
| ENST00000377748.6:c.2334_2335del | ENSP00000366977.2:p.Glu779GlyfsTer? | |
| ENST00000400913.6:c.2160_2161del | ENSP00000383704.1:p.Glu721GlyfsTer? | |
| ENST00000400915.8:c.2271_2272del | ENSP00000383706.4:p.Glu758GlyfsTer? | |
| ENST00000489097.6:n.2636_2637del | ||
| ENST00000535355.6:c.2367_2368del | ENSP00000441445.1:p.Glu790GlyfsTer? | |
| ENST00000537245.6:c.2271_2272del | ENSP00000439625.2:p.Glu758GlyfsTer? | |
| ENST00000673471.2:c.2457_2458del | ENSP00000500749.1:p.Glu820GlyfsTer? | |
| ENST00000674790.1:c.*2372_*2373del | ENSP00000502815.1:n.*2372_*2373del | |
| ENST00000675123.1:c.2160_2161del | ENSP00000502132.1:p.Glu721GlyfsTer? | |
| ENST00000675139.1:n.231_232del | ||
| ENST00000675548.1:c.*1988_*1989del | ENSP00000502684.1:n.*1988_*1989del | |
| ENST00000675694.1:c.2160_2161del | ENSP00000501925.1:p.Glu721GlyfsTer? | |
| ENST00000675976.1:c.33_34del | ENSP00000501611.1:p.Glu12GlyfsTer? | |
| ENST00000340850.9:c.2160_2161del | ENSP00000344570.5:p.Glu721GlyfsTer? | |
| ENST00000377725.5:c.2160_2161del | ENSP00000366954.1:p.Glu721GlyfsTer? | |
| ENST00000377728.7:c.2160_2161del | ENSP00000366957.3:p.Glu721GlyfsTer? | |
| ENST00000377732.5:c.2271_2272del | ENSP00000366961.1:p.Glu758GlyfsTer? | |
| ENST00000377740.4:c.2391_2392del | ENSP00000366969.3:p.Glu798GlyfsTer? | |
| ENST00000377748.5:c.2391_2392del | ENSP00000366977.1:p.Glu798GlyfsTer? | |
| ENST00000400913.5:c.2160_2161del | ENSP00000383704.1:p.Glu721GlyfsTer? | |
| ENST00000400915.7:c.2328_2329del | ENSP00000383706.3:p.Glu777GlyfsTer? | |
| ENST00000487949.4:n.1362_1363del | ||
| ENST00000489097.5:n.2636_2637del | ||
| ENST00000535355.5:c.2367_2368del | ENSP00000441445.1:p.Glu790GlyfsTer? | |
| ENST00000537245.5:c.2397_2398del | ENSP00000439625.1:p.Glu800GlyfsTer? | |
| NM_001042663.1:c.2328_2329del | NP_001036128.1:p.Glu777GlyfsTer? | |
| NM_001042664.1:c.2160_2161del | NP_001036129.1:p.Glu721GlyfsTer? | |
| NM_001042665.1:c.2160_2161del | NP_001036130.1:p.Glu721GlyfsTer? | |
| NM_001265592.1:c.2397_2398del | NP_001252521.1:p.Glu800GlyfsTer? | |
| NM_001265593.1:c.2367_2368del | NP_001252522.1:p.Glu790GlyfsTer? | |
| NM_001265594.1:c.2160_2161del | NP_001252523.1:p.Glu721GlyfsTer? | |
| NM_020631.4:c.2160_2161del | NP_065682.2:p.Glu721GlyfsTer? | |
| NM_198681.3:c.2391_2392del | NP_941374.2:p.Glu798GlyfsTer? | |
| NM_001042663.2:c.2328_2329del | NP_001036128.1:p.Glu777GlyfsTer? | |
| NM_001265594.2:c.2160_2161del | NP_001252523.1:p.Glu721GlyfsTer? | |
| NM_020631.5:c.2160_2161del | NP_065682.2:p.Glu721GlyfsTer? | |
| NM_001042663.3:c.2271_2272del | NP_001036128.2:p.Glu758GlyfsTer? | |
| NM_001265592.2:c.2271_2272del | NP_001252521.2:p.Glu758GlyfsTer? | |
| NM_020631.6:c.2160_2161del MANE Select | NP_065682.2:p.Glu721GlyfsTer? | |
| NM_198681.4:c.2160_2161del | NP_941374.3:p.Glu721GlyfsTer? |