Linked Data
gnomAD v4:
19-855767-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.855768dup , CM000681.2:g.855768dup | GRCh38 |
| NC_000019.9:g.855768dup , CM000681.1:g.855768dup | GRCh37 |
| NC_000019.8:g.806768dup | NCBI36 |
| NG_007274.1:g.1104dup , LRG_46:g.1104dup | |
| NG_009627.1:g.8478dup , LRG_57:g.8478dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263621.2:c.571dup MANE Select | ENSP00000263621.1:p.Arg191LysfsTer? | |
| ENST00000263621.1:c.571dup | ENSP00000263621.1:p.Arg191LysfsTer? | |
| ENST00000590230.5:c.571dup | ENSP00000466090.1:p.Arg191LysfsTer? | |
| NM_001972.2:c.571dup , LRG_57t1:c.571dup | NP_001963.1:p.Arg191LysfsTer? | |
| XM_011527775.1:c.571dup | XP_011526077.1:p.Arg191LysfsTer? | |
| XM_011527776.1:c.571dup | XP_011526078.1:p.Arg191LysfsTer? | |
| NM_001972.3:c.571dup | NP_001963.1:p.Arg191LysfsTer? | |
| NM_001972.4:c.571dup MANE Select | NP_001963.1:p.Arg191LysfsTer? |