Linked Data
gnomAD v3:
12-102865722-A-ACTTCAGCCCAAATTATATTTAT
gnomAD v4:
12-102865722-A-ACTTCAGCCCAAATTATATTTAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102865722_102865723insCTTCAGCCCAAATTATATTTAT , CM000674.2:g.102865722_102865723insCTTCAGCCCAAATTATATTTAT | GRCh38 |
| NC_000012.11:g.103259500_103259501insCTTCAGCCCAAATTATATTTAT , CM000674.1:g.103259500_103259501insCTTCAGCCCAAATTATATTTAT | GRCh37 |
| NC_000012.10:g.101783630_101783631insCTTCAGCCCAAATTATATTTAT | NCBI36 |
| NG_008690.1:g.56880_56881insATAAATATAATTTGGGCTGAAG | |
| NG_008690.2:g.97688_97689insATAAATATAATTTGGGCTGAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.509+873_509+874insATAAATATAATTTGGGCTGAAG MANE Select | ENSP00000448059.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| ENST00000307000.7:c.494+873_494+874insATAAATATAATTTGGGCTGAAG | ENSP00000303500.2:n.494+873_494+874insATAAATATAATTTGGGCTGAAG | |
| ENST00000549111.5:n.605+873_605+874insATAAATATAATTTGGGCTGAAG | ||
| ENST00000551988.5:n.531-10391_531-10390insATAAATATAATTTGGGCTGAAG | ||
| ENST00000553106.5:c.509+873_509+874insATAAATATAATTTGGGCTGAAG | ENSP00000448059.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| NM_000277.1:c.509+873_509+874insATAAATATAATTTGGGCTGAAG | NP_000268.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| XM_011538422.1:c.509+873_509+874insATAAATATAATTTGGGCTGAAG | XP_011536724.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| NM_000277.2:c.509+873_509+874insATAAATATAATTTGGGCTGAAG | NP_000268.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| NM_001354304.1:c.509+873_509+874insATAAATATAATTTGGGCTGAAG | NP_001341233.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| XM_017019370.2:c.509+873_509+874insATAAATATAATTTGGGCTGAAG | XP_016874859.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| NM_000277.3:c.509+873_509+874insATAAATATAATTTGGGCTGAAG MANE Select | NP_000268.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG | |
| NM_001354304.2:c.509+873_509+874insATAAATATAATTTGGGCTGAAG | NP_001341233.1:n.509+873_509+874insATAAATATAATTTGGGCTGAAG |