Linked Data
dbSNP Id:
rs553558392
gnomAD v3:
11-19188613-A-AGTGTATGT
gnomAD v4:
11-19188613-A-AGTGTATGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19188617_19188618insATGTGTGT , CM000673.2:g.19188617_19188618insATGTGTGT | GRCh38 |
| NC_000011.9:g.19210164_19210165insATGTGTGT , CM000673.1:g.19210164_19210165insATGTGTGT | GRCh37 |
| NC_000011.8:g.19166740_19166741insATGTGTGT | NCBI36 |
| NG_011932.2:g.26960_26961insACATACAC , LRG_440:g.26960_26961insACATACAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265968.9:c.113-310_113-309insACATACAC MANE Select | ENSP00000265968.3:n.113-310_113-309insACATACAC | |
| ENST00000533783.2:c.113-310_113-309insACATACAC | ENSP00000431813.1:n.113-310_113-309insACATACAC | |
| ENST00000647990.1:c.113-310_113-309insACATACAC | ENSP00000496798.1:n.113-310_113-309insACATACAC | |
| ENST00000648719.1:c.113-3569_113-3568insACATACAC | ENSP00000497633.1:n.113-3569_113-3568insACATACAC | |
| ENST00000649235.1:c.113-310_113-309insACATACAC | ENSP00000497388.1:n.113-310_113-309insACATACAC | |
| ENST00000649842.1:c.113-2266_113-2265insACATACAC | ENSP00000497531.1:n.113-2266_113-2265insACATACAC | |
| ENST00000265968.7:c.113-310_113-309insACATACAC | ENSP00000265968.3:n.113-310_113-309insACATACAC | |
| ENST00000533783.1:c.113-310_113-309insACATACAC | ENSP00000431813.1:n.113-310_113-309insACATACAC | |
| NM_003476.4:c.113-310_113-309insACATACAC | NP_003467.1:n.113-310_113-309insACATACAC | |
| XM_024448698.1:c.113-2266_113-2265insACATACAC | XP_024304466.1:n.113-2266_113-2265insACATACAC | |
| NM_001369404.1:c.113-2266_113-2265insACATACAC | NP_001356333.1:n.113-2266_113-2265insACATACAC | |
| NM_003476.5:c.113-310_113-309insACATACAC MANE Select | NP_003467.1:n.113-310_113-309insACATACAC |