Linked Data
ClinVar Variation Id:
55222
ClinVar RCV Id:
RCV000241516
dbSNP Id:
rs397509182
PubMed:
PMID:18694767
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074478del , CM000679.2:g.43074478del | GRCh38 |
| NC_000017.10:g.41226495del , CM000679.1:g.41226495del | GRCh37 |
| NC_000017.9:g.38480021del | NCBI36 |
| NG_005905.2:g.143506del , LRG_292:g.143506del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461574.2:c.4525del | ENSP00000417241.2:p.Met1509CysfsTer? | |
| ENST00000470026.6:c.4528del | ENSP00000419274.2:p.Met1510CysfsTer? | |
| ENST00000473961.6:c.4402del | ENSP00000420201.2:p.Met1468CysfsTer? | |
| ENST00000476777.6:c.4522del | ENSP00000417554.2:p.Met1508CysfsTer? | |
| ENST00000477152.6:c.4450del | ENSP00000419988.2:p.Met1484CysfsTer? | |
| ENST00000478531.6:c.1216del | ENSP00000420412.2:p.Met406CysfsTer? | |
| ENST00000489037.2:c.4450del | ENSP00000420781.2:p.Met1484CysfsTer? | |
| ENST00000493919.6:c.1078del | ENSP00000418819.2:p.Met360CysfsTer? | |
| ENST00000494123.6:c.4528del | ENSP00000419103.2:p.Met1510CysfsTer? | |
| ENST00000497488.2:c.3640del | ENSP00000418986.2:p.Met1214CysfsTer? | |
| ENST00000618469.2:c.4528del | ENSP00000478114.2:p.Met1510CysfsTer? | |
| ENST00000634433.2:c.4405del | ENSP00000489431.2:p.Met1469CysfsTer? | |
| ENST00000644379.2:c.4594del | ENSP00000496570.2:p.Met1532CysfsTer? | |
| ENST00000644555.2:c.1078del | ENSP00000494614.2:p.Met360CysfsTer? | |
| ENST00000652672.2:c.4387del | ENSP00000498906.2:p.Met1463CysfsTer? | |
| ENST00000484087.6:c.1090del | ENSP00000419481.2:p.Met364CysfsTer? | |
| ENST00000700182.1:c.1135del | ENSP00000514849.1:p.Met379CysfsTer? | |
| ENST00000357654.9:c.4528del MANE Select | ENSP00000350283.3:p.Met1510CysfsTer? | |
| ENST00000471181.7:c.4591del | ENSP00000418960.2:p.Met1531CysfsTer? | |
| ENST00000644379.1:c.915del | ||
| ENST00000352993.7:c.1102del | ENSP00000312236.5:p.Met368CysfsTer? | |
| ENST00000357654.7:c.4528del | ENSP00000350283.3:p.Met1510CysfsTer? | |
| ENST00000461221.5:c.*4311del | ENSP00000418548.1:n.*4311del | |
| ENST00000468300.5:c.1216del | ENSP00000417148.1:p.Met406CysfsTer? | |
| ENST00000471181.6:c.4591del | ENSP00000418960.2:p.Met1531CysfsTer? | |
| ENST00000478531.5:c.1216del | ENSP00000420412.1:p.Met406CysfsTer? | |
| ENST00000484087.5:c.841del | ENSP00000419481.1:p.Met281CysfsTer? | |
| ENST00000491747.6:c.1216del | ENSP00000420705.2:p.Met406CysfsTer? | |
| ENST00000493795.5:c.4387del | ENSP00000418775.1:p.Met1463CysfsTer? | |
| ENST00000493919.5:c.1078del | ENSP00000418819.1:p.Met360CysfsTer? | |
| ENST00000586385.5:c.5-10527del | ENSP00000465818.1:n.5-10527del | |
| ENST00000591534.5:c.1del | ENSP00000467329.1:p.Met1CysfsTer? | |
| ENST00000591849.5:c.-98-24288del | ENSP00000465347.1:n.-98-24288del | |
| NM_007294.3:c.4528del , LRG_292t1:c.4528del | NP_009225.1:p.Met1510CysfsTer? | |
| NM_007297.3:c.4387del | NP_009228.2:p.Met1463CysfsTer? | |
| NM_007298.3:c.1216del | NP_009229.2:p.Met406CysfsTer? | |
| NM_007299.3:c.1216del | NP_009230.2:p.Met406CysfsTer? | |
| NM_007300.3:c.4591del | NP_009231.2:p.Met1531CysfsTer? | |
| NR_027676.1:n.4664del | ||
| NM_007294.4:c.4528del MANE Select | NP_009225.1:p.Met1510CysfsTer? | |
| NM_007297.4:c.4387del | NP_009228.2:p.Met1463CysfsTer? | |
| NM_007299.4:c.1216del | NP_009230.2:p.Met406CysfsTer? | |
| NM_007300.4:c.4591del | NP_009231.2:p.Met1531CysfsTer? | |
| NR_027676.2:n.4705del |