Linked Data
gnomAD v4:
6-24301794-T-TGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24301795_24301798dup , CM000668.2:g.24301795_24301798dup | GRCh38 |
| NC_000006.11:g.24302023_24302026dup , CM000668.1:g.24302023_24302026dup | GRCh37 |
| NC_000006.10:g.24410002_24410005dup | NCBI36 |
| NG_012829.1:g.61255_61258dup | |
| NG_012829.2:g.86495_86498dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.474_477dup MANE Select | ENSP00000367715.3:p.Arg160ProfsTer? | |
| ENST00000378454.7:c.474_477dup | ENSP00000367715.3:p.Arg160ProfsTer? | |
| NM_001195610.1:c.474_477dup | NP_001182539.1:p.Arg160ProfsTer? | |
| NM_016356.4:c.474_477dup | NP_057440.2:p.Arg160ProfsTer? | |
| NM_016356.5:c.474_477dup MANE Select | NP_057440.2:p.Arg160ProfsTer? | |
| NM_001195610.2:c.474_477dup | NP_001182539.1:p.Arg160ProfsTer? |