Linked Data
gnomAD v4:
12-52451387-TGCCTCCTGTGCACCGAGA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451391_52451408del , CM000674.2:g.52451391_52451408del | GRCh38 |
| NC_000012.11:g.52845175_52845192del , CM000674.1:g.52845175_52845192del | GRCh37 |
| NC_000012.10:g.51131442_51131459del | NCBI36 |
| NG_008299.1:g.5722_5739del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.540+134_540+151del MANE Select | ENSP00000252252.3:n.540+134_540+151del | |
| ENST00000252252.3:c.540+134_540+151del | ENSP00000252252.3:n.540+134_540+151del | |
| NM_005555.3:c.540+134_540+151del | NP_005546.2:n.540+134_540+151del | |
| NM_005555.4:c.540+134_540+151del MANE Select | NP_005546.2:n.540+134_540+151del |