Linked Data
ClinVar Variation Id:
487521
ClinVar RCV Id:
RCV000576880
dbSNP Id:
rs1553454436
PubMed:
PMID:20301503
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.149582258_149582259del , CM000664.2:g.149582258_149582259del | GRCh38 |
| NC_000002.11:g.150438772_150438773del , CM000664.1:g.150438772_150438773del | GRCh37 |
| NC_000002.10:g.150147018_150147019del | NCBI36 |
| NG_009189.1:g.10560_10561del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303319.10:c.24_25del MANE Select | ENSP00000301920.5:p.Arg8SerfsTer15 | |
| ENST00000303319.9:c.24_25del | ENSP00000301920.5:p.Arg8SerfsTer15 | |
| ENST00000422782.2:c.24_25del | ENSP00000408331.2:p.Arg8SerfsTer15 | |
| ENST00000428879.5:c.24_25del | ENSP00000389060.1:p.Arg8SerfsTer15 | |
| NM_015702.2:c.24_25del | NP_056517.1:p.Arg8SerfsTer15 | |
| NM_015702.3:c.24_25del MANE Select | NP_056517.1:p.Arg8SerfsTer15 |