Linked Data
gnomAD v4:
12-52651971-A-AGCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52651975_52651977dup , CM000674.2:g.52651975_52651977dup | GRCh38 |
| NC_000012.11:g.53045759_53045761dup , CM000674.1:g.53045759_53045761dup | GRCh37 |
| NC_000012.10:g.51332026_51332028dup | NCBI36 |
| NG_008296.1:g.5202_5204dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.169_171dup MANE Select | ENSP00000310861.3:p.Gly57_Phe58insGly | |
| ENST00000309680.3:c.169_171dup | ENSP00000310861.3:p.Gly57_Phe58insGly | |
| NM_000423.2:c.169_171dup | NP_000414.2:p.Gly57_Phe58insGly | |
| NM_000423.3:c.169_171dup MANE Select | NP_000414.2:p.Gly57_Phe58insGly |