Linked Data
gnomAD v4:
1-160127557-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127559dup , CM000663.2:g.160127559dup | GRCh38 |
| NC_000001.10:g.160097349dup , CM000663.1:g.160097349dup | GRCh37 |
| NC_000001.9:g.158363973dup | NCBI36 |
| NG_008014.1:g.16802dup , LRG_6:g.16802dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.756dup MANE Select | ENSP00000354490.3:p.Arg253GlnfsTer? | |
| ENST00000361216.7:c.756dup | ENSP00000354490.3:p.Arg253GlnfsTer? | |
| ENST00000392233.7:c.756dup | ENSP00000376066.3:p.Arg253GlnfsTer? | |
| ENST00000472488.5:n.859dup | ||
| NM_000702.3:c.756dup | NP_000693.1:p.Arg253GlnfsTer? | |
| NM_000702.4:c.756dup MANE Select | NP_000693.1:p.Arg253GlnfsTer? |