Canonical Allele Identifier: CA290823669

Gene: RPL27

Linked Data

• dbSNP Id: rs1020900862
• gnomAD v2: 17-41151158-CAT-C
• gnomAD v3: 17-42999141-CAT-C
• gnomAD v4: 17-42999141-CAT-C
• MyVariant Identifiers: chr17:g.41151159_41151160del (hg19) ; chr17:g.42999142_42999143del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999143_42999144del , CM000679.2:g.42999143_42999144del	GRCh38
NC_000017.10:g.41151160_41151161del , CM000679.1:g.41151160_41151161del	GRCh37
NC_000017.9:g.38404686_38404687del	NCBI36
NG_053099.1:g.5871_5872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+312_81+313del MANE Select	ENSP00000253788.5:n.81+312_81+313del
ENST00000589913.6:c.81+312_81+313del	ENSP00000464813.1:n.81+312_81+313del
ENST00000590864.2:c.82-43_82-42del	ENSP00000467939.2:n.82-43_82-42del
ENST00000253788.9:c.81+312_81+313del	ENSP00000253788.4:n.81+312_81+313del
ENST00000586277.5:c.104+231_104+232del
ENST00000587478.1:n.448_449del
ENST00000588830.1:c.81+312_81+313del	ENSP00000468468.1:n.81+312_81+313del
ENST00000589037.5:c.81+312_81+313del	ENSP00000467587.1:n.81+312_81+313del
ENST00000589913.5:c.81+312_81+313del	ENSP00000464813.1:n.81+312_81+313del
ENST00000593262.1:n.725_726del
NM_000988.3:c.81+312_81+313del	NP_000979.1:n.81+312_81+313del
NM_000988.5:c.81+312_81+313del MANE Select	NP_000979.1:n.81+312_81+313del
NM_001349921.1:c.81+312_81+313del	NP_001336850.1:n.81+312_81+313del
NM_001349922.1:c.81+312_81+313del	NP_001336851.1:n.81+312_81+313del
NR_146327.1:n.164+312_164+313del
NM_001349921.2:c.81+312_81+313del	NP_001336850.1:n.81+312_81+313del
NM_001349922.2:c.81+312_81+313del	NP_001336851.1:n.81+312_81+313del
NR_146327.2:n.136+312_136+313del