Canonical Allele Identifier: CA1123840

Gene: RPS27

Linked Data

• dbSNP Id: rs770671657
• ExAC: 1:153963623 AGAG / A
• gnomAD v2: 1-153963623-AGAG-A
• gnomAD v3: 1-153991147-AGAG-A
• gnomAD v4: 1-153991147-AGAG-A
• COSMIC: COSM1334357 ; COSM4334835
• MyVariant Identifiers: chr1:g.153963624_153963626del (hg19) ; chr1:g.153991148_153991150del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153991151_153991153del , CM000663.2:g.153991151_153991153del	GRCh38
NC_000001.10:g.153963627_153963629del , CM000663.1:g.153963627_153963629del	GRCh37
NC_000001.9:g.152230251_152230253del	NCBI36
NG_053102.2:g.5397_5399del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000477151.2:n.231_233del
ENST00000643794.1:c.164_166del	ENSP00000495765.1:p.Gly55del
ENST00000651669.1:c.43_45del MANE Select	ENSP00000499044.1:p.Glu15del
ENST00000368567.4:c.43_45del	ENSP00000357555.4:p.Glu15del
ENST00000392558.4:c.43_45del	ENSP00000376341.4:p.Glu15del
ENST00000477151.1:n.198_200del
ENST00000493224.5:n.309_311del
NM_001030.4:c.43_45del	NP_001021.1:p.Glu15del
NM_001030.6:c.43_45del MANE Select	NP_001021.1:p.Glu15del
NM_001349946.1:c.-54_-52del	NP_001336875.1:n.-54_-52del
NM_001349947.1:c.-54_-52del	NP_001336876.1:n.-54_-52del
NM_001349946.2:c.-54_-52del	NP_001336875.1:n.-54_-52del
NM_001349947.2:c.-54_-52del	NP_001336876.1:n.-54_-52del