Linked Data
ClinVar Variation Id:
15360
ClinVar RCV Id:
RCV000016610
dbSNP Id:
rs63750968
PubMed:
PMID:4699574
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5226664_5226669del , CM000673.2:g.5226664_5226669del | GRCh38 |
| NC_000011.9:g.5247894_5247899del , CM000673.1:g.5247894_5247899del | GRCh37 |
| NC_000011.8:g.5204470_5204475del | NCBI36 |
| NG_000007.3:g.70948_70953del | |
| NG_059281.1:g.5404_5409del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.224_229del | ENSP00000494175.1:p.Gly75_Leu76del | |
| ENST00000335295.4:c.224_229del MANE Select | ENSP00000333994.3:p.Gly75_Leu76del | |
| ENST00000380315.2:c.224_229del | ENSP00000369671.2:p.Gly75_Leu76del | |
| ENST00000475226.1:n.156_161del | ||
| ENST00000485743.1:n.275_280del | ||
| ENST00000633227.1:c.*40_*45del | ENSP00000488004.1:n.*40_*45del | |
| NM_000518.4:c.224_229del | NP_000509.1:p.Gly75_Leu76del | |
| NM_000518.5:c.224_229del MANE Select | NP_000509.1:p.Gly75_Leu76del |