Canonical Allele Identifier: CA532802977

Gene: RPS27A

Linked Data

• dbSNP Id: rs112330410
• gnomAD v2: 2-55461369-TAAA-T
• gnomAD v4: 2-55234233-TAAA-T
• MyVariant Identifiers: chr2:g.55461372_55461374del (hg19) ; chr2:g.55234236_55234238del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234241_55234243del , CM000664.2:g.55234241_55234243del	GRCh38
NC_000002.11:g.55461377_55461379del , CM000664.1:g.55461377_55461379del	GRCh37
NC_000002.10:g.55314881_55314883del	NCBI36
NG_017017.1:g.7313_7315del
NG_033063.1:g.3328_3330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+37_189+39del MANE Select	ENSP00000272317.6:n.189+37_189+39del
ENST00000272317.10:c.189+37_189+39del	ENSP00000272317.6:n.189+37_189+39del
ENST00000402285.7:c.189+37_189+39del	ENSP00000383981.3:n.189+37_189+39del
ENST00000404735.1:c.189+37_189+39del	ENSP00000385659.1:n.189+37_189+39del
ENST00000449323.5:c.189+37_189+39del	ENSP00000408482.1:n.189+37_189+39del
ENST00000468810.1:n.184_186del
ENST00000478196.6:n.226+37_226+39del
ENST00000495843.1:n.256_258del
NM_001135592.2:c.189+37_189+39del	NP_001129064.1:n.189+37_189+39del
NM_001177413.1:c.189+37_189+39del	NP_001170884.1:n.189+37_189+39del
NM_002954.5:c.189+37_189+39del	NP_002945.1:n.189+37_189+39del
NM_002954.6:c.189+37_189+39del MANE Select	NP_002945.1:n.189+37_189+39del