Canonical Allele Identifier: CA2638054671

Gene: RPL27

Linked Data

• gnomAD v4: 17-42999168-CTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999179_42999182del , CM000679.2:g.42999179_42999182del	GRCh38
NC_000017.10:g.41151196_41151199del , CM000679.1:g.41151196_41151199del	GRCh37
NC_000017.9:g.38404722_38404725del	NCBI36
NG_053099.1:g.5907_5910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+348_81+351del MANE Select	ENSP00000253788.5:n.81+348_81+351del
ENST00000589913.6:c.81+348_81+351del	ENSP00000464813.1:n.81+348_81+351del
ENST00000590864.2:c.82-7_82-4del	ENSP00000467939.2:n.82-7_82-4del
ENST00000253788.9:c.81+348_81+351del	ENSP00000253788.4:n.81+348_81+351del
ENST00000586277.5:c.104+267_104+270del
ENST00000587478.1:n.484_487del
ENST00000588830.1:c.81+348_81+351del	ENSP00000468468.1:n.81+348_81+351del
ENST00000589037.5:c.81+348_81+351del	ENSP00000467587.1:n.81+348_81+351del
ENST00000589913.5:c.81+348_81+351del	ENSP00000464813.1:n.81+348_81+351del
ENST00000593262.1:n.761_764del
NM_000988.3:c.81+348_81+351del	NP_000979.1:n.81+348_81+351del
NM_000988.5:c.81+348_81+351del MANE Select	NP_000979.1:n.81+348_81+351del
NM_001349921.1:c.81+348_81+351del	NP_001336850.1:n.81+348_81+351del
NM_001349922.1:c.81+348_81+351del	NP_001336851.1:n.81+348_81+351del
NR_146327.1:n.164+348_164+351del
NM_001349921.2:c.81+348_81+351del	NP_001336850.1:n.81+348_81+351del
NM_001349922.2:c.81+348_81+351del	NP_001336851.1:n.81+348_81+351del
NR_146327.2:n.136+348_136+351del