Canonical Allele Identifier: CA983862802

Gene: RPL27

Linked Data

• dbSNP Id: rs2050332807
• gnomAD v3: 17-42999173-T-TTTTTTTTTC
• gnomAD v4: 17-42999173-T-TTTTTTTTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999181_42999182insCTTTTTTTT , CM000679.2:g.42999181_42999182insCTTTTTTTT	GRCh38
NC_000017.10:g.41151198_41151199insCTTTTTTTT , CM000679.1:g.41151198_41151199insCTTTTTTTT	GRCh37
NC_000017.9:g.38404724_38404725insCTTTTTTTT	NCBI36
NG_053099.1:g.5909_5910insCTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+350_81+351insCTTTTTTTT MANE Select	ENSP00000253788.5:n.81+350_81+351insCTTTTTTTT
ENST00000589913.6:c.81+350_81+351insCTTTTTTTT	ENSP00000464813.1:n.81+350_81+351insCTTTTTTTT
ENST00000590864.2:c.82-5_82-4insCTTTTTTTT	ENSP00000467939.2:n.82-5_82-4insCTTTTTTTT
ENST00000253788.9:c.81+350_81+351insCTTTTTTTT	ENSP00000253788.4:n.81+350_81+351insCTTTTTTTT
ENST00000586277.5:c.104+269_104+270insCTTTTTTTT
ENST00000587478.1:n.486_487insCTTTTTTTT
ENST00000588830.1:c.81+350_81+351insCTTTTTTTT	ENSP00000468468.1:n.81+350_81+351insCTTTTTTTT
ENST00000589037.5:c.81+350_81+351insCTTTTTTTT	ENSP00000467587.1:n.81+350_81+351insCTTTTTTTT
ENST00000589913.5:c.81+350_81+351insCTTTTTTTT	ENSP00000464813.1:n.81+350_81+351insCTTTTTTTT
ENST00000593262.1:n.763_764insCTTTTTTTT
NM_000988.3:c.81+350_81+351insCTTTTTTTT	NP_000979.1:n.81+350_81+351insCTTTTTTTT
NM_000988.5:c.81+350_81+351insCTTTTTTTT MANE Select	NP_000979.1:n.81+350_81+351insCTTTTTTTT
NM_001349921.1:c.81+350_81+351insCTTTTTTTT	NP_001336850.1:n.81+350_81+351insCTTTTTTTT
NM_001349922.1:c.81+350_81+351insCTTTTTTTT	NP_001336851.1:n.81+350_81+351insCTTTTTTTT
NR_146327.1:n.164+350_164+351insCTTTTTTTT
NM_001349921.2:c.81+350_81+351insCTTTTTTTT	NP_001336850.1:n.81+350_81+351insCTTTTTTTT
NM_001349922.2:c.81+350_81+351insCTTTTTTTT	NP_001336851.1:n.81+350_81+351insCTTTTTTTT
NR_146327.2:n.136+350_136+351insCTTTTTTTT