Linked Data
gnomAD v4:
6-121447478-ATCT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447481_121447483del , CM000668.2:g.121447481_121447483del | GRCh38 |
| NC_000006.11:g.121768627_121768629del , CM000668.1:g.121768627_121768629del | GRCh37 |
| NC_000006.10:g.121810326_121810328del | NCBI36 |
| NG_008308.1:g.16883_16885del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.634_636del MANE Select | ENSP00000282561.3:p.Phe212del | |
| ENST00000647564.1:c.634_636del | ENSP00000497565.1:p.Phe212del | |
| ENST00000649003.1:c.634_636del | ENSP00000497283.1:p.Phe212del | |
| ENST00000650427.1:c.634_636del | ENSP00000497367.1:p.Phe212del | |
| ENST00000282561.3:c.634_636del | ENSP00000282561.3:p.Phe212del | |
| NM_000165.4:c.634_636del | NP_000156.1:p.Phe212del | |
| NM_000165.5:c.634_636del MANE Select | NP_000156.1:p.Phe212del |