Linked Data
dbSNP Id:
rs1456281907
gnomAD v3:
11-67585199-G-GTTTTTT
gnomAD v4:
11-67585199-G-GTTTTTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585199_67585200insTTTTTT , CM000673.2:g.67585199_67585200insTTTTTT | GRCh38 |
| NC_000011.9:g.67352670_67352671insTTTTTT , CM000673.1:g.67352670_67352671insTTTTTT | GRCh37 |
| NC_000011.8:g.67109246_67109247insTTTTTT | NCBI36 |
| NG_012075.1:g.6605_6606insTTTTTT , LRG_723:g.6605_6606insTTTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.294_295insTTTTTT | ENSP00000381604.1:p.Glu98_Asp99insPhePhe | |
| ENST00000398606.10:c.294_295insTTTTTT MANE Select | ENSP00000381607.3:p.Glu98_Asp99insPhePhe | |
| ENST00000646888.1:c.*10_*11insTTTTTT | ENSP00000494477.1:n.*10_*11insTTTTTT | |
| ENST00000398603.5:c.294_295insTTTTTT | ENSP00000381604.1:p.Glu98_Asp99insPhePhe | |
| ENST00000398606.7:c.294_295insTTTTTT | ENSP00000381607.3:p.Glu98_Asp99insPhePhe | |
| ENST00000467591.1:n.405_406insTTTTTT | ||
| ENST00000494593.1:n.1089_1090insTTTTTT | ||
| ENST00000498765.5:c.357_358insTTTTTT | ||
| NM_000852.3:c.294_295insTTTTTT , LRG_723t1:c.294_295insTTTTTT | NP_000843.1:p.Glu98_Asp99insPhePhe | |
| NM_000852.4:c.294_295insTTTTTT MANE Select | NP_000843.1:p.Glu98_Asp99insPhePhe |