Canonical Allele Identifier: CA47602638

Gene: RPS27A

Linked Data

• dbSNP Id: rs751564772
• gnomAD v4: 2-55234288-CTGACTCTGT-C
• MyVariant Identifiers: chr2:g.55461425_55461433del (hg19) ; chr2:g.55234289_55234297del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234289_55234297del , CM000664.2:g.55234289_55234297del	GRCh38
NC_000002.11:g.55461425_55461433del , CM000664.1:g.55461425_55461433del	GRCh37
NC_000002.10:g.55314929_55314937del	NCBI36
NG_017017.1:g.7361_7369del
NG_033063.1:g.3267_3275del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+85_189+93del MANE Select	ENSP00000272317.6:n.189+85_189+93del
ENST00000272317.10:c.189+85_189+93del	ENSP00000272317.6:n.189+85_189+93del
ENST00000402285.7:c.189+85_189+93del	ENSP00000383981.3:n.189+85_189+93del
ENST00000404735.1:c.189+85_189+93del	ENSP00000385659.1:n.189+85_189+93del
ENST00000449323.5:c.189+85_189+93del	ENSP00000408482.1:n.189+85_189+93del
ENST00000468810.1:n.232_240del
ENST00000478196.6:n.226+85_226+93del
ENST00000495843.1:n.304_312del
NM_001135592.2:c.189+85_189+93del	NP_001129064.1:n.189+85_189+93del
NM_001177413.1:c.189+85_189+93del	NP_001170884.1:n.189+85_189+93del
NM_002954.5:c.189+85_189+93del	NP_002945.1:n.189+85_189+93del
NM_002954.6:c.189+85_189+93del MANE Select	NP_002945.1:n.189+85_189+93del