Linked Data
ClinVar Variation Id:
21124
ClinVar RCV Id:
RCV000020214
RCV000503973
RCV000516632
RCV001249085
RCV001847609
RCV002408471
RCV002476994
dbSNP Id:
rs193929377
ExAC:
13:28494457 GC / G
gnomAD v2:
13-28494457-GC-G
gnomAD v3:
13-27920320-GC-G
gnomAD v4:
13-27920320-GC-G
MyVariant Identifiers:
chr13:g.28494463del (hg19)
chr13:g.28494458del (hg19)
chr13:g.27920326del (hg38)
chr13:g.27920321del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27920326del , CM000675.2:g.27920326del | GRCh38 |
| NC_000013.10:g.28494463del , CM000675.1:g.28494463del | GRCh37 |
| NC_000013.9:g.27392463del | NCBI36 |
| NG_008183.1:g.5296del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381033.5:c.188del (PDX1) MANE Select | ENSP00000370421.4:p.Pro63ArgfsTer? | |
| ENST00000381033.4:c.188del (PDX1) | ENSP00000370421.4:p.Pro63ArgfsTer? | |
| NM_000209.3:c.188del (PDX1) | NP_000200.1:p.Pro63ArgfsTer? | |
| NR_047484.1:n.241+843del (PLUT) | ||
| XR_941578.1:n.333del (PDX1) | ||
| XR_941579.1:n.333del (PDX1) | ||
| XR_941580.1:n.333del (PDX1) | ||
| XR_941578.2:n.345del (PDX1) | ||
| XR_941580.2:n.345del (PDX1) | ||
| NM_000209.4:c.188del (PDX1) MANE Select | NP_000200.1:p.Pro63ArgfsTer? |