Linked Data
gnomAD v4:
4-185144956-G-GGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144960_185144961dup , CM000666.2:g.185144960_185144961dup | GRCh38 |
| NC_000004.11:g.186066114_186066115dup , CM000666.1:g.186066114_186066115dup | GRCh37 |
| NC_000004.10:g.186303108_186303109dup | NCBI36 |
| NG_013001.1:g.6698_6699dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281456.11:c.308_309dup MANE Select | ENSP00000281456.5:p.Asp104TrpfsTer? | |
| ENST00000281456.10:c.308_309dup | ENSP00000281456.5:p.Asp104TrpfsTer? | |
| ENST00000491736.1:c.308_309dup | ENSP00000476711.1:p.Asp104TrpfsTer? | |
| NM_001151.3:c.308_309dup | NP_001142.2:p.Asp104TrpfsTer? | |
| NM_001151.4:c.308_309dup MANE Select | NP_001142.2:p.Asp104TrpfsTer? |