Canonical Allele Identifier: CA2659094222
Gene: RPS27A HGNC NCBI

Linked Data

gnomAD v4: 2-55234199-CA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.55234203del , CM000664.2:g.55234203del GRCh38
NC_000002.11:g.55461339del , CM000664.1:g.55461339del GRCh37
NC_000002.10:g.55314843del NCBI36
NG_017017.1:g.7275del
NG_033063.1:g.3364del

Transcript Alleles

HGVS Amino-acid Change
ENST00000272317.11:c.188del MANE Select ENSP00000272317.6:p.Lys63ArgfsTer9
ENST00000272317.10:c.188del ENSP00000272317.6:p.Lys63ArgfsTer9
ENST00000402285.7:c.188del ENSP00000383981.3:p.Lys63ArgfsTer9
ENST00000404735.1:c.188del ENSP00000385659.1:p.Lys63ArgfsTer9
ENST00000449323.5:c.188del ENSP00000408482.1:p.Lys63ArgfsTer9
ENST00000468810.1:n.146del
ENST00000478196.6:n.225del
ENST00000495843.1:n.218del
NM_001135592.2:c.188del NP_001129064.1:p.Lys63ArgfsTer9
NM_001177413.1:c.188del NP_001170884.1:p.Lys63ArgfsTer9
NM_002954.5:c.188del NP_002945.1:p.Lys63ArgfsTer9
NM_002954.6:c.188del MANE Select NP_002945.1:p.Lys63ArgfsTer9
Search 100 bp 5'
Search 100 bp 3'