Linked Data
dbSNP Id:
rs1950018912
gnomAD v3:
11-43706708-G-GTGTGTGTT
gnomAD v4:
11-43706708-G-GTGTGTGTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.43706715_43706716insTTGTGTGT , CM000673.2:g.43706715_43706716insTTGTGTGT | GRCh38 |
| NC_000011.9:g.43728265_43728266insTTGTGTGT , CM000673.1:g.43728265_43728266insTTGTGTGT | GRCh37 |
| NC_000011.8:g.43684841_43684842insTTGTGTGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278353.10:c.160+25728_160+25729insTTGTGTGT MANE Select | ENSP00000278353.4:n.160+25728_160+25729insTTGTGTGT | |
| ENST00000527433.6:c.123+25911_123+25912insTTGTGTGT | ENSP00000490749.1:n.123+25911_123+25912insTTGTGTGT | |
| ENST00000636007.1:c.160+25728_160+25729insTTGTGTGT | ENSP00000490822.1:n.160+25728_160+25729insTTGTGTGT | |
| ENST00000636722.1:c.*20+25532_*20+25533insTTGTGTGT | ENSP00000490003.1:n.*20+25532_*20+25533insTTGTGTGT | |
| ENST00000637401.1:c.160+25728_160+25729insTTGTGTGT | ENSP00000490421.1:n.160+25728_160+25729insTTGTGTGT | |
| ENST00000638034.1:c.64+25358_64+25359insTTGTGTGT | ENSP00000490701.1:n.64+25358_64+25359insTTGTGTGT | |
| ENST00000278353.8:c.160+25728_160+25729insTTGTGTGT | ENSP00000278353.4:n.160+25728_160+25729insTTGTGTGT | |
| ENST00000395700.4:c.160+25728_160+25729insTTGTGTGT | ENSP00000379052.4:n.160+25728_160+25729insTTGTGTGT | |
| ENST00000527433.5:n.125+25911_125+25912insTTGTGTGT | ||
| ENST00000529261.5:n.377+33576_377+33577insTTGTGTGT | ||
| ENST00000531185.5:c.160+25728_160+25729insTTGTGTGT | ENSP00000436582.1:n.160+25728_160+25729insTTGTGTGT | |
| ENST00000532864.5:n.282-44196_282-44195insTTGTGTGT | ||
| NM_016142.2:c.160+25728_160+25729insTTGTGTGT | NP_057226.1:n.160+25728_160+25729insTTGTGTGT | |
| XM_011520156.1:c.-63+25532_-63+25533insTTGTGTGT | XP_011518458.1:n.-63+25532_-63+25533insTTGTGTGT | |
| XM_017017881.1:c.64+25358_64+25359insTTGTGTGT | XP_016873370.1:n.64+25358_64+25359insTTGTGTGT | |
| XM_024448571.1:c.-62-44196_-62-44195insTTGTGTGT | XP_024304339.1:n.-62-44196_-62-44195insTTGTGTGT | |
| XM_024448572.1:c.-62-44196_-62-44195insTTGTGTGT | XP_024304340.1:n.-62-44196_-62-44195insTTGTGTGT | |
| XM_024448573.1:c.-62-44196_-62-44195insTTGTGTGT | XP_024304341.1:n.-62-44196_-62-44195insTTGTGTGT | |
| NM_016142.3:c.160+25728_160+25729insTTGTGTGT MANE Select | NP_057226.1:n.160+25728_160+25729insTTGTGTGT |