Linked Data
dbSNP Id:
rs1563160216
gnomAD v2:
7-19156685-G-GCCGCCGCCGCCCGCGC
gnomAD v3:
7-19117062-G-GCCGCCGCCGCCCGCGC
gnomAD v4:
7-19117062-G-GCCGCCGCCGCCCGCGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19117063_19117064insCGCCGCCGCCCGCGCC , CM000669.2:g.19117063_19117064insCGCCGCCGCCCGCGCC | GRCh38 |
| NC_000007.13:g.19156686_19156687insCGCCGCCGCCCGCGCC , CM000669.1:g.19156686_19156687insCGCCGCCGCCCGCGCC | GRCh37 |
| NC_000007.12:g.19123211_19123212insCGCCGCCGCCCGCGCC | NCBI36 |
| NG_008114.1:g.5610_5611insGCGCGGGCGGCGGCGG | |
| NG_008114.2:g.5610_5611insGCGCGGGCGGCGGCGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.259_260insGCGCGGGCGGCGGCGG MANE Select | ENSP00000242261.5:p.Ala87GlyfsTer? | |
| ENST00000242261.5:c.259_260insGCGCGGGCGGCGGCGG | ENSP00000242261.5:p.Ala87GlyfsTer? | |
| ENST00000354571.5:c.56_57insGCGCGGGCGGCGGCGG | ||
| NM_000474.3:c.259_260insGCGCGGGCGGCGGCGG | NP_000465.1:p.Ala87GlyfsTer? | |
| XM_011515496.1:c.259_260insGCGCGGGCGGCGGCGG | XP_011513798.1:p.Ala87GlyfsTer? | |
| NR_149001.1:n.610_611insGCGCGGGCGGCGGCGG | ||
| NM_000474.4:c.259_260insGCGCGGGCGGCGGCGG MANE Select | NP_000465.1:p.Ala87GlyfsTer? | |
| NR_149001.2:n.574_575insGCGCGGGCGGCGGCGG |