Canonical Allele Identifier: CA532802979

Gene: RPS27A

Linked Data

• dbSNP Id: rs1558538844
• gnomAD v2: 2-55461378-AAT-A
• gnomAD v4: 2-55234242-AAT-A
• MyVariant Identifiers: chr2:g.55461379_55461383delinsGTT (hg19) ; chr2:g.55234243_55234247delinsGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234243_55234244del , CM000664.2:g.55234243_55234244del	GRCh38
NC_000002.11:g.55461379_55461380del , CM000664.1:g.55461379_55461380del	GRCh37
NC_000002.10:g.55314883_55314884del	NCBI36
NG_017017.1:g.7315_7316del
NG_033063.1:g.3320_3321del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+39_189+40del MANE Select	ENSP00000272317.6:n.189+39_189+40del
ENST00000272317.10:c.189+39_189+40del	ENSP00000272317.6:n.189+39_189+40del
ENST00000402285.7:c.189+39_189+40del	ENSP00000383981.3:n.189+39_189+40del
ENST00000404735.1:c.189+39_189+40del	ENSP00000385659.1:n.189+39_189+40del
ENST00000449323.5:c.189+39_189+40del	ENSP00000408482.1:n.189+39_189+40del
ENST00000468810.1:n.186_187del
ENST00000478196.6:n.226+39_226+40del
ENST00000495843.1:n.258_259del
NM_001135592.2:c.189+39_189+40del	NP_001129064.1:n.189+39_189+40del
NM_001177413.1:c.189+39_189+40del	NP_001170884.1:n.189+39_189+40del
NM_002954.5:c.189+39_189+40del	NP_002945.1:n.189+39_189+40del
NM_002954.6:c.189+39_189+40del MANE Select	NP_002945.1:n.189+39_189+40del