Canonical Allele Identifier: CA2638054669

Gene: RPL27

Linked Data

• gnomAD v4: 17-42999168-CTTTTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999177_42999182del , CM000679.2:g.42999177_42999182del	GRCh38
NC_000017.10:g.41151194_41151199del , CM000679.1:g.41151194_41151199del	GRCh37
NC_000017.9:g.38404720_38404725del	NCBI36
NG_053099.1:g.5905_5910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+346_81+351del MANE Select	ENSP00000253788.5:n.81+346_81+351del
ENST00000589913.6:c.81+346_81+351del	ENSP00000464813.1:n.81+346_81+351del
ENST00000590864.2:c.82-9_82-4del	ENSP00000467939.2:n.82-9_82-4del
ENST00000253788.9:c.81+346_81+351del	ENSP00000253788.4:n.81+346_81+351del
ENST00000586277.5:c.104+265_104+270del
ENST00000587478.1:n.482_487del
ENST00000588830.1:c.81+346_81+351del	ENSP00000468468.1:n.81+346_81+351del
ENST00000589037.5:c.81+346_81+351del	ENSP00000467587.1:n.81+346_81+351del
ENST00000589913.5:c.81+346_81+351del	ENSP00000464813.1:n.81+346_81+351del
ENST00000593262.1:n.759_764del
NM_000988.3:c.81+346_81+351del	NP_000979.1:n.81+346_81+351del
NM_000988.5:c.81+346_81+351del MANE Select	NP_000979.1:n.81+346_81+351del
NM_001349921.1:c.81+346_81+351del	NP_001336850.1:n.81+346_81+351del
NM_001349922.1:c.81+346_81+351del	NP_001336851.1:n.81+346_81+351del
NR_146327.1:n.164+346_164+351del
NM_001349921.2:c.81+346_81+351del	NP_001336850.1:n.81+346_81+351del
NM_001349922.2:c.81+346_81+351del	NP_001336851.1:n.81+346_81+351del
NR_146327.2:n.136+346_136+351del