Linked Data
ClinVar Variation Id:
217762
ClinVar RCV Id:
RCV000201827
dbSNP Id:
rs863225244
gnomAD v2:
9-136507458-GA-G
gnomAD v4:
9-133642336-GA-G
PubMed:
PMID:20301647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133642337del , CM000671.2:g.133642337del | GRCh38 |
| NC_000009.11:g.136507459del , CM000671.1:g.136507459del | GRCh37 |
| NC_000009.10:g.135497280del | NCBI36 |
| NG_008645.1:g.10975del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263611.3:c.464del | ENSP00000263611.3:p.Glu155GlyfsTer? | |
| ENST00000393056.8:c.617del MANE Select | ENSP00000376776.2:p.Glu206GlyfsTer? | |
| ENST00000263611.2:c.428del | ENSP00000263611.2:p.Glu143GlyfsTer? | |
| ENST00000393056.6:c.617del | ENSP00000376776.2:p.Glu206GlyfsTer? | |
| NM_000787.3:c.617del | NP_000778.3:p.Glu206GlyfsTer? | |
| NM_000787.4:c.617del MANE Select | NP_000778.3:p.Glu206GlyfsTer? |