Canonical Allele Identifier: CA772167040

Gene: RPL27

Linked Data

• dbSNP Id: rs1343599109
• gnomAD v3: 17-42999158-CTTTTCTT-C
• gnomAD v4: 17-42999158-CTTTTCTT-C
• MyVariant Identifiers: chr17:g.41151176_41151182del (hg19) ; chr17:g.42999159_42999165del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999161_42999167del , CM000679.2:g.42999161_42999167del	GRCh38
NC_000017.10:g.41151178_41151184del , CM000679.1:g.41151178_41151184del	GRCh37
NC_000017.9:g.38404704_38404710del	NCBI36
NG_053099.1:g.5889_5895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+330_81+336del MANE Select	ENSP00000253788.5:n.81+330_81+336del
ENST00000589913.6:c.81+330_81+336del	ENSP00000464813.1:n.81+330_81+336del
ENST00000590864.2:c.82-25_82-19del	ENSP00000467939.2:n.82-25_82-19del
ENST00000253788.9:c.81+330_81+336del	ENSP00000253788.4:n.81+330_81+336del
ENST00000586277.5:c.104+249_104+255del
ENST00000587478.1:n.466_472del
ENST00000588830.1:c.81+330_81+336del	ENSP00000468468.1:n.81+330_81+336del
ENST00000589037.5:c.81+330_81+336del	ENSP00000467587.1:n.81+330_81+336del
ENST00000589913.5:c.81+330_81+336del	ENSP00000464813.1:n.81+330_81+336del
ENST00000593262.1:n.743_749del
NM_000988.3:c.81+330_81+336del	NP_000979.1:n.81+330_81+336del
NM_000988.5:c.81+330_81+336del MANE Select	NP_000979.1:n.81+330_81+336del
NM_001349921.1:c.81+330_81+336del	NP_001336850.1:n.81+330_81+336del
NM_001349922.1:c.81+330_81+336del	NP_001336851.1:n.81+330_81+336del
NR_146327.1:n.164+330_164+336del
NM_001349921.2:c.81+330_81+336del	NP_001336850.1:n.81+330_81+336del
NM_001349922.2:c.81+330_81+336del	NP_001336851.1:n.81+330_81+336del
NR_146327.2:n.136+330_136+336del