Linked Data
gnomAD v4:
12-56042069-G-GTCTCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.56042071_56042075dup , CM000674.2:g.56042071_56042075dup | GRCh38 |
| NC_000012.11:g.56435855_56435859dup , CM000674.1:g.56435855_56435859dup | GRCh37 |
| NC_000012.10:g.54722122_54722126dup | NCBI36 |
| NG_023201.1:g.5170_5174dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356464.10:c.-96_-92dup | ENSP00000348849.5:n.-96_-92dup | |
| ENST00000646449.2:c.-96_-92dup MANE Select | ENSP00000496643.1:n.-96_-92dup | |
| ENST00000356464.9:c.-96_-92dup | ENSP00000348849.5:n.-96_-92dup | |
| ENST00000552361.1:c.-35+7_-35+11dup | ENSP00000450339.1:n.-35+7_-35+11dup | |
| NM_001029.3:c.-96_-92dup | NP_001020.2:n.-96_-92dup | |
| NM_001029.5:c.-96_-92dup MANE Select | NP_001020.2:n.-96_-92dup |