Linked Data
gnomAD v4:
6-24290792-A-AATGTAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290794_24290799dup , CM000668.2:g.24290794_24290799dup | GRCh38 |
| NC_000006.11:g.24291022_24291027dup , CM000668.1:g.24291022_24291027dup | GRCh37 |
| NC_000006.10:g.24399001_24399006dup | NCBI36 |
| NG_012829.1:g.72255_72260dup | |
| NG_012829.2:g.97495_97500dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.704+134_704+139dup MANE Select | ENSP00000367715.3:n.704+134_704+139dup | |
| ENST00000378454.7:c.704+134_704+139dup | ENSP00000367715.3:n.704+134_704+139dup | |
| NM_001195610.1:c.704+134_704+139dup | NP_001182539.1:n.704+134_704+139dup | |
| NM_016356.4:c.704+134_704+139dup | NP_057440.2:n.704+134_704+139dup | |
| NM_016356.5:c.704+134_704+139dup MANE Select | NP_057440.2:n.704+134_704+139dup | |
| NM_001195610.2:c.704+134_704+139dup | NP_001182539.1:n.704+134_704+139dup |