Linked Data
ClinVar Variation Id:
143087
ClinVar RCV Id:
RCV000132606
dbSNP Id:
rs527236055
gnomAD v4:
2-29072135-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29072137del , CM000664.2:g.29072137del | GRCh38 |
| NC_000002.11:g.29295003del , CM000664.1:g.29295003del | GRCh37 |
| NC_000002.10:g.29148507del | NCBI36 |
| NG_021427.1:g.7126del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331664.6:c.2126del MANE Select | ENSP00000332809.4:p.Gly709GlufsTer? | |
| ENST00000331664.5:c.2126del | ENSP00000332809.4:p.Gly709GlufsTer? | |
| NM_001029883.2:c.2126del | NP_001025054.1:p.Gly709GlufsTer? | |
| XM_011532826.1:c.2126del | XP_011531128.1:p.Gly709GlufsTer? | |
| XR_939901.1:n.185+2970del | ||
| XR_939902.1:n.173+2982del | ||
| NM_001029883.3:c.2126del MANE Select | NP_001025054.1:p.Gly709GlufsTer? |