Linked Data
gnomAD v4:
12-57764314-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764315dup , CM000674.2:g.57764315dup | GRCh38 |
| NC_000012.11:g.58158098dup , CM000674.1:g.58158098dup | GRCh37 |
| NC_000012.10:g.56444365dup | NCBI36 |
| NG_007076.1:g.7879dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713544.1:c.1217+63dup | ENSP00000518840.1:n.1217+63dup | |
| ENST00000713545.1:c.*141+63dup | ENSP00000518841.1:n.*141+63dup | |
| ENST00000228606.9:c.1136+63dup MANE Select | ENSP00000228606.4:n.1136+63dup | |
| ENST00000228606.8:c.1136+63dup | ENSP00000228606.4:n.1136+63dup | |
| ENST00000546567.5:c.431+63dup | ENSP00000449472.1:n.431+63dup | |
| ENST00000547344.5:n.1275+63dup | ||
| NM_000785.3:c.1136+63dup | NP_000776.1:n.1136+63dup | |
| NM_000785.4:c.1136+63dup MANE Select | NP_000776.1:n.1136+63dup |