Linked Data
gnomAD v4:
12-120726916-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120726917dup , CM000674.2:g.120726917dup | GRCh38 |
| NC_000012.11:g.121164720dup , CM000674.1:g.121164720dup | GRCh37 |
| NC_000012.10:g.119649103dup | NCBI36 |
| NG_007991.1:g.6150dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.47-109dup MANE Select | ENSP00000242592.4:n.47-109dup | |
| ENST00000242592.8:c.47-109dup | ENSP00000242592.4:n.47-109dup | |
| ENST00000411593.2:c.47-109dup | ENSP00000401045.2:n.47-109dup | |
| ENST00000539690.1:n.159-109dup | ||
| NM_000017.3:c.47-109dup | NP_000008.1:n.47-109dup | |
| NM_001302554.1:c.47-109dup | NP_001289483.1:n.47-109dup | |
| NM_000017.4:c.47-109dup MANE Select | NP_000008.1:n.47-109dup | |
| NM_001302554.2:c.47-109dup | NP_001289483.1:n.47-109dup |