Canonical Allele Identifier: CA1030875802

Gene: RPS27A

Linked Data

• dbSNP Id: rs1675679381
• gnomAD v3: 2-55234259-TTTTTA-T
• gnomAD v4: 2-55234259-TTTTTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55234265_55234269del , CM000664.2:g.55234265_55234269del	GRCh38
NC_000002.11:g.55461401_55461405del , CM000664.1:g.55461401_55461405del	GRCh37
NC_000002.10:g.55314905_55314909del	NCBI36
NG_017017.1:g.7337_7341del
NG_033063.1:g.3300_3304del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272317.11:c.189+61_189+65del MANE Select	ENSP00000272317.6:n.189+61_189+65del
ENST00000272317.10:c.189+61_189+65del	ENSP00000272317.6:n.189+61_189+65del
ENST00000402285.7:c.189+61_189+65del	ENSP00000383981.3:n.189+61_189+65del
ENST00000404735.1:c.189+61_189+65del	ENSP00000385659.1:n.189+61_189+65del
ENST00000449323.5:c.189+61_189+65del	ENSP00000408482.1:n.189+61_189+65del
ENST00000468810.1:n.208_212del
ENST00000478196.6:n.226+61_226+65del
ENST00000495843.1:n.280_284del
NM_001135592.2:c.189+61_189+65del	NP_001129064.1:n.189+61_189+65del
NM_001177413.1:c.189+61_189+65del	NP_001170884.1:n.189+61_189+65del
NM_002954.5:c.189+61_189+65del	NP_002945.1:n.189+61_189+65del
NM_002954.6:c.189+61_189+65del MANE Select	NP_002945.1:n.189+61_189+65del