Linked Data
gnomAD v4:
5-140333362-C-CTTATCTTCCTCAGGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140333362_140333363insTTATCTTCCTCAGGT , CM000667.2:g.140333362_140333363insTTATCTTCCTCAGGT | GRCh38 |
| NC_000005.9:g.139712947_139712948insTTATCTTCCTCAGGT , CM000667.1:g.139712947_139712948insTTATCTTCCTCAGGT | GRCh37 |
| NC_000005.8:g.139693131_139693132insTTATCTTCCTCAGGT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230990.7:c.*936_*937insACCTGAGGAAGATAA MANE Select | ENSP00000230990.6:n.*936_*937insACCTGAGGAAGATAA | |
| ENST00000230990.6:c.*936_*937insACCTGAGGAAGATAA | ENSP00000230990.6:n.*936_*937insACCTGAGGAAGATAA | |
| NM_001945.2:c.*936_*937insACCTGAGGAAGATAA | NP_001936.1:n.*936_*937insACCTGAGGAAGATAA | |
| NM_001945.3:c.*936_*937insACCTGAGGAAGATAA MANE Select | NP_001936.1:n.*936_*937insACCTGAGGAAGATAA |