Linked Data
ClinVar Variation Id:
21257
dbSNP Id:
rs137852736
gnomAD v3:
5-16616952-GGA-G
gnomAD v4:
5-16616952-GGA-G
PubMed:
PMID:21089229
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16616954_16616955del , CM000667.2:g.16616954_16616955del | GRCh38 |
| NC_000005.9:g.16617063_16617064del , CM000667.1:g.16617063_16617064del | GRCh37 |
| NC_000005.8:g.16670063_16670064del | NCBI36 |
| NG_016644.2:g.5056_5057del , LRG_363:g.5056_5057del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000509048.2:n.48_49del (RETREG1) | ||
| ENST00000682229.1:c.18_19del (RETREG1) | ENSP00000507342.1:p.Pro7GlyfsTer? | |
| ENST00000682564.1:c.18_19del (RETREG1) | ENSP00000508099.1:p.Pro7GlyfsTer? | |
| ENST00000682808.1:n.85_86del (RETREG1) | ||
| ENST00000682828.1:n.15_16del (RETREG1) | ||
| ENST00000682982.1:n.41_42del (RETREG1) | ||
| ENST00000683045.1:n.44_45del (RETREG1) | ||
| ENST00000683527.1:c.18_19del (RETREG1) | ENSP00000507253.1:p.Pro7GlyfsTer? | |
| ENST00000683973.1:n.44_45del (RETREG1) | ||
| ENST00000684521.1:c.18_19del (RETREG1) | ENSP00000507521.1:p.Pro7GlyfsTer? | |
| ENST00000684695.1:n.36_37del (RETREG1) | ||
| ENST00000306320.10:c.18_19del (RETREG1) MANE Select | ENSP00000304642.9:p.Pro7GlyfsTer? | |
| ENST00000306320.9:c.18_19del (RETREG1) | ENSP00000304642.9:p.Pro7GlyfsTer? | |
| ENST00000509048.1:n.85_86del (RETREG1) | ||
| NM_001034850.2:c.18_19del , LRG_363t1:c.18_19del (RETREG1) | NP_001030022.1:p.Pro7GlyfsTer? | |
| NR_109946.1:n.561+468_561+469del (RETREG1-AS1) | ||
| XM_011514053.1:c.18_19del (RETREG1) | XP_011512355.1:p.Pro7GlyfsTer? | |
| XM_011514053.3:c.18_19del (RETREG1) | XP_011512355.1:p.Pro7GlyfsTer? | |
| NM_001034850.3:c.18_19del (RETREG1) MANE Select | NP_001030022.1:p.Pro7GlyfsTer? |