Linked Data
gnomAD v4:
17-42404790-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404794dup , CM000679.2:g.42404794dup | GRCh38 |
| NC_000017.10:g.40556812dup , CM000679.1:g.40556812dup | GRCh37 |
| NC_000017.9:g.37810338dup | NCBI36 |
| NG_015845.1:g.23530dup | |
| NG_015845.2:g.23530dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1069dup MANE Select | ENSP00000349541.4:p.Glu357GlyfsTer? | |
| ENST00000357037.5:c.1069dup | ENSP00000349541.4:p.Glu357GlyfsTer? | |
| NM_012232.5:c.1069dup | NP_036364.2:p.Glu357GlyfsTer? | |
| NM_012232.6:c.1069dup MANE Select | NP_036364.2:p.Glu357GlyfsTer? |