Canonical Allele Identifier: CA1252173899
Gene: RPS27A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55234294_55234296delinsCTG , CM000664.2:g.55234294_55234296delinsCTG GRCh38
NC_000002.11:g.55461430_55461432delinsCTG , CM000664.1:g.55461430_55461432delinsCTG GRCh37
NC_000002.10:g.55314934_55314936delinsCTG NCBI36
NG_017017.1:g.7366_7368delinsCTG
NG_033063.1:g.3268_3270delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000272317.11:c.189+90_189+92delinsCTG MANE Select ENSP00000272317.6:n.189+90_189+92delinsCTG
ENST00000272317.10:c.189+90_189+92delinsCTG ENSP00000272317.6:n.189+90_189+92delinsCTG
ENST00000402285.7:c.189+90_189+92delinsCTG ENSP00000383981.3:n.189+90_189+92delinsCTG
ENST00000404735.1:c.189+90_189+92delinsCTG ENSP00000385659.1:n.189+90_189+92delinsCTG
ENST00000449323.5:c.189+90_189+92delinsCTG ENSP00000408482.1:n.189+90_189+92delinsCTG
ENST00000468810.1:n.237_239delinsCTG
ENST00000478196.6:n.226+90_226+92delinsCTG
ENST00000495843.1:n.309_311delinsCTG
NM_001135592.2:c.189+90_189+92delinsCTG NP_001129064.1:n.189+90_189+92delinsCTG
NM_001177413.1:c.189+90_189+92delinsCTG NP_001170884.1:n.189+90_189+92delinsCTG
NM_002954.5:c.189+90_189+92delinsCTG NP_002945.1:n.189+90_189+92delinsCTG
NM_002954.6:c.189+90_189+92delinsCTG MANE Select NP_002945.1:n.189+90_189+92delinsCTG