Linked Data
ClinVar Variation Id:
425813
ClinVar RCV Id:
RCV000488864
dbSNP Id:
rs1085307250
PubMed:
PMID:26387786
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202518873_202518879del , CM000664.2:g.202518873_202518879del | GRCh38 |
| NC_000002.11:g.203383596_203383602del , CM000664.1:g.203383596_203383602del | GRCh37 |
| NC_000002.10:g.203091841_203091847del | NCBI36 |
| NG_009363.1:g.147547_147553del , LRG_712:g.147547_147553del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.673_679del MANE Select | ENSP00000363708.4:p.Arg225LeufsTer3 | |
| ENST00000638587.1:c.604_610del | ENSP00000491062.1:p.Arg202LeufsTer3 | |
| ENST00000374574.2:c.673_679del | ENSP00000363702.2:p.Arg225LeufsTer3 | |
| ENST00000374580.8:c.673_679del | ENSP00000363708.4:p.Arg225LeufsTer3 | |
| NM_001204.6:c.673_679del , LRG_712t1:c.673_679del | NP_001195.2:p.Arg225LeufsTer3 | |
| XM_011511687.1:c.673_679del | XP_011509989.1:p.Arg225LeufsTer3 | |
| XM_011511688.1:c.673_679del | XP_011509990.1:p.Arg225LeufsTer3 | |
| NM_001204.7:c.673_679del MANE Select | NP_001195.2:p.Arg225LeufsTer3 |