Linked Data
gnomAD v4:
7-19117062-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117063dup , CM000669.2:g.19117063dup | GRCh38 |
| NC_000007.13:g.19156686dup , CM000669.1:g.19156686dup | GRCh37 |
| NC_000007.12:g.19123211dup | NCBI36 |
| NG_008114.1:g.5610dup | |
| NG_008114.2:g.5610dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.259dup MANE Select | ENSP00000242261.5:p.Ala87GlyfsTer? | |
| ENST00000242261.5:c.259dup | ENSP00000242261.5:p.Ala87GlyfsTer? | |
| ENST00000354571.5:c.56dup | ||
| NM_000474.3:c.259dup | NP_000465.1:p.Ala87GlyfsTer? | |
| XM_011515496.1:c.259dup | XP_011513798.1:p.Ala87GlyfsTer? | |
| NR_149001.1:n.610dup | ||
| NM_000474.4:c.259dup MANE Select | NP_000465.1:p.Ala87GlyfsTer? | |
| NR_149001.2:n.574dup |