Canonical Allele Identifier: CA2659094255

Gene: RPS27A

Linked Data

• gnomAD v4: 2-55234222-G-GCAGC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234224_55234227dup , CM000664.2:g.55234224_55234227dup	GRCh38
NC_000002.11:g.55461360_55461363dup , CM000664.1:g.55461360_55461363dup	GRCh37
NC_000002.10:g.55314864_55314867dup	NCBI36
NG_017017.1:g.7296_7299dup
NG_033063.1:g.3338_3341dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+20_189+23dup MANE Select	ENSP00000272317.6:n.189+20_189+23dup
ENST00000272317.10:c.189+20_189+23dup	ENSP00000272317.6:n.189+20_189+23dup
ENST00000402285.7:c.189+20_189+23dup	ENSP00000383981.3:n.189+20_189+23dup
ENST00000404735.1:c.189+20_189+23dup	ENSP00000385659.1:n.189+20_189+23dup
ENST00000449323.5:c.189+20_189+23dup	ENSP00000408482.1:n.189+20_189+23dup
ENST00000468810.1:n.167_170dup
ENST00000478196.6:n.226+20_226+23dup
ENST00000495843.1:n.239_242dup
NM_001135592.2:c.189+20_189+23dup	NP_001129064.1:n.189+20_189+23dup
NM_001177413.1:c.189+20_189+23dup	NP_001170884.1:n.189+20_189+23dup
NM_002954.5:c.189+20_189+23dup	NP_002945.1:n.189+20_189+23dup
NM_002954.6:c.189+20_189+23dup MANE Select	NP_002945.1:n.189+20_189+23dup