Canonical Allele Identifier: CA2260739018

Gene: RPL27

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999163_42999173delinsCTTTTCTTTTT , CM000679.2:g.42999163_42999173delinsCTTTTCTTTTT	GRCh38
NC_000017.10:g.41151180_41151190delinsCTTTTCTTTTT , CM000679.1:g.41151180_41151190delinsCTTTTCTTTTT	GRCh37
NC_000017.9:g.38404706_38404716delinsCTTTTCTTTTT	NCBI36
NG_053099.1:g.5891_5901delinsCTTTTCTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+332_81+342delinsCTTTTCTTTTT MANE Select	ENSP00000253788.5:n.81+332_81+342delinsCTTTTCTTTTT
ENST00000589913.6:c.81+332_81+342delinsCTTTTCTTTTT	ENSP00000464813.1:n.81+332_81+342delinsCTTTTCTTTTT
ENST00000590864.2:c.82-23_82-13delinsCTTTTCTTTTT	ENSP00000467939.2:n.82-23_82-13delinsCTTTTCTTTTT
ENST00000253788.9:c.81+332_81+342delinsCTTTTCTTTTT	ENSP00000253788.4:n.81+332_81+342delinsCTTTTCTTTTT
ENST00000586277.5:c.104+251_104+261delinsCTTTTCTTTTT
ENST00000587478.1:n.468_478delinsCTTTTCTTTTT
ENST00000588830.1:c.81+332_81+342delinsCTTTTCTTTTT	ENSP00000468468.1:n.81+332_81+342delinsCTTTTCTTTTT
ENST00000589037.5:c.81+332_81+342delinsCTTTTCTTTTT	ENSP00000467587.1:n.81+332_81+342delinsCTTTTCTTTTT
ENST00000589913.5:c.81+332_81+342delinsCTTTTCTTTTT	ENSP00000464813.1:n.81+332_81+342delinsCTTTTCTTTTT
ENST00000593262.1:n.745_755delinsCTTTTCTTTTT
NM_000988.3:c.81+332_81+342delinsCTTTTCTTTTT	NP_000979.1:n.81+332_81+342delinsCTTTTCTTTTT
NM_000988.5:c.81+332_81+342delinsCTTTTCTTTTT MANE Select	NP_000979.1:n.81+332_81+342delinsCTTTTCTTTTT
NM_001349921.1:c.81+332_81+342delinsCTTTTCTTTTT	NP_001336850.1:n.81+332_81+342delinsCTTTTCTTTTT
NM_001349922.1:c.81+332_81+342delinsCTTTTCTTTTT	NP_001336851.1:n.81+332_81+342delinsCTTTTCTTTTT
NR_146327.1:n.164+332_164+342delinsCTTTTCTTTTT
NM_001349921.2:c.81+332_81+342delinsCTTTTCTTTTT	NP_001336850.1:n.81+332_81+342delinsCTTTTCTTTTT
NM_001349922.2:c.81+332_81+342delinsCTTTTCTTTTT	NP_001336851.1:n.81+332_81+342delinsCTTTTCTTTTT
NR_146327.2:n.136+332_136+342delinsCTTTTCTTTTT