Linked Data
dbSNP Id:
rs1868613076
gnomAD v3:
12-101785882-C-CTTTTTGTGCATT
gnomAD v4:
12-101785882-C-CTTTTTGTGCATT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101785884_101785885insTTTGTGCATTTT , CM000674.2:g.101785884_101785885insTTTGTGCATTTT | GRCh38 |
| NC_000012.11:g.102179662_102179663insTTTGTGCATTTT , CM000674.1:g.102179662_102179663insTTTGTGCATTTT | GRCh37 |
| NC_000012.10:g.100703793_100703794insTTTGTGCATTTT | NCBI36 |
| NG_021243.1:g.49985_49986insAATGCACAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.571+129_571+130insAATGCACAAAAA MANE Select | ENSP00000299314.7:n.571+129_571+130insAATGCACAAAAA | |
| ENST00000299314.11:c.571+129_571+130insAATGCACAAAAA | ENSP00000299314.7:n.571+129_571+130insAATGCACAAAAA | |
| ENST00000549940.5:c.571+129_571+130insAATGCACAAAAA | ENSP00000449150.1:n.571+129_571+130insAATGCACAAAAA | |
| ENST00000550352.1:n.494_495insAATGCACAAAAA | ||
| ENST00000552681.1:c.205+129_205+130insAATGCACAAAAA | ENSP00000449217.1:n.205+129_205+130insAATGCACAAAAA | |
| NM_024312.4:c.571+129_571+130insAATGCACAAAAA | NP_077288.2:n.571+129_571+130insAATGCACAAAAA | |
| XM_006719593.2:c.571+129_571+130insAATGCACAAAAA | XP_006719656.1:n.571+129_571+130insAATGCACAAAAA | |
| XM_011538731.1:c.490+129_490+130insAATGCACAAAAA | XP_011537033.1:n.490+129_490+130insAATGCACAAAAA | |
| XM_006719593.3:c.571+129_571+130insAATGCACAAAAA | XP_006719656.1:n.571+129_571+130insAATGCACAAAAA | |
| XM_011538731.2:c.490+129_490+130insAATGCACAAAAA | XP_011537033.1:n.490+129_490+130insAATGCACAAAAA | |
| XM_017019961.1:c.355+129_355+130insAATGCACAAAAA | XP_016875450.1:n.355+129_355+130insAATGCACAAAAA | |
| XM_017019962.2:c.-780+129_-780+130insAATGCACAAAAA | XP_016875451.1:n.-780+129_-780+130insAATGCACAAAAA | |
| NM_024312.5:c.571+129_571+130insAATGCACAAAAA MANE Select | NP_077288.2:n.571+129_571+130insAATGCACAAAAA |