Linked Data
gnomAD v4:
12-52314636-G-GGCTCTCTTTTGGGCCACTTAATA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52314636_52314637insGCTCTCTTTTGGGCCACTTAATA , CM000674.2:g.52314636_52314637insGCTCTCTTTTGGGCCACTTAATA | GRCh38 |
| NC_000012.11:g.52708420_52708421insGCTCTCTTTTGGGCCACTTAATA , CM000674.1:g.52708420_52708421insGCTCTCTTTTGGGCCACTTAATA | GRCh37 |
| NC_000012.10:g.50994687_50994688insGCTCTCTTTTGGGCCACTTAATA | NCBI36 |
| NG_008352.1:g.11762_11763insTATTAAGTGGCCCAAAAGAGAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293670.3:c.1476_1477insTATTAAGTGGCCCAAAAGAGAGC MANE Select | ENSP00000293670.3:p.His493TyrfsTer2 | |
| NM_002282.3:c.1476_1477insTATTAAGTGGCCCAAAAGAGAGC MANE Select | NP_002273.3:p.His493TyrfsTer2 |