Canonical Allele Identifier: CA645293886
Gene: RPS27 HGNC NCBI

Linked Data

ClinVar Variation Id: 417765
ClinVar RCV Id: RCV000477728
dbSNP Id: rs1085307115

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.153991198del , CM000663.2:g.153991198del GRCh38
NC_000001.10:g.153963674del , CM000663.1:g.153963674del GRCh37
NC_000001.9:g.152230298del NCBI36
NG_053102.2:g.5444del

Transcript Alleles

HGVS Amino-acid change
ENST00000477151.2:n.278del
ENST00000643794.1:c.211del ENSP00000495765.1:p.Leu71TyrfsTer?
ENST00000651669.1:c.90del MANE Select ENSP00000499044.1:p.Tyr31ThrfsTer5
ENST00000368567.4:c.90del ENSP00000357555.4:p.Tyr31ThrfsTer5
ENST00000392558.4:c.90del ENSP00000376341.4:p.Tyr31ThrfsTer5
ENST00000477151.1:n.245del
ENST00000493224.5:n.356del
NM_001030.4:c.90del NP_001021.1:p.Tyr31ThrfsTer5
NM_001030.6:c.90del MANE Select NP_001021.1:p.Tyr31ThrfsTer5
NM_001349946.1:c.-7del NP_001336875.1:n.-7del
NM_001349947.1:c.-7del NP_001336876.1:n.-7del
NM_001349946.2:c.-7del NP_001336875.1:n.-7del
NM_001349947.2:c.-7del NP_001336876.1:n.-7del