Linked Data
gnomAD v4:
17-42536625-C-CG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536630dup , CM000679.2:g.42536630dup | GRCh38 |
| NC_000017.10:g.40688648dup , CM000679.1:g.40688648dup | GRCh37 |
| NC_000017.9:g.37942174dup | NCBI36 |
| NG_011552.1:g.5698dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.358dup MANE Select | ENSP00000225927.1:p.Glu120GlyfsTer? | |
| ENST00000225927.6:c.358dup | ENSP00000225927.1:p.Glu120GlyfsTer? | |
| ENST00000586516.5:c.108dup | ||
| ENST00000591587.1:c.101dup | ENSP00000467836.1:p.Ala35SerfsTer2 | |
| NM_000263.3:c.358dup | NP_000254.2:p.Glu120GlyfsTer? | |
| XM_006721920.2:c.-385dup | XP_006721983.1:n.-385dup | |
| XM_011524840.1:c.-385dup | XP_011523142.1:n.-385dup | |
| XM_024450771.1:c.358dup | XP_024306539.1:p.Glu120GlyfsTer16 | |
| NM_000263.4:c.358dup MANE Select | NP_000254.2:p.Glu120GlyfsTer? |