Canonical Allele Identifier: CA626076787

Gene: RPL27

Linked Data

• dbSNP Id: rs1248822887
• gnomAD v2: 17-41151170-CT-C
• gnomAD v3: 17-42999153-CT-C
• gnomAD v4: 17-42999153-CT-C
• MyVariant Identifiers: chr17:g.41151171del (hg19) ; chr17:g.42999154del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999157del , CM000679.2:g.42999157del	GRCh38
NC_000017.10:g.41151174del , CM000679.1:g.41151174del	GRCh37
NC_000017.9:g.38404700del	NCBI36
NG_053099.1:g.5885del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+326del MANE Select	ENSP00000253788.5:n.81+326del
ENST00000589913.6:c.81+326del	ENSP00000464813.1:n.81+326del
ENST00000590864.2:c.82-29del	ENSP00000467939.2:n.82-29del
ENST00000253788.9:c.81+326del	ENSP00000253788.4:n.81+326del
ENST00000586277.5:c.104+245del
ENST00000587478.1:n.462del
ENST00000588830.1:c.81+326del	ENSP00000468468.1:n.81+326del
ENST00000589037.5:c.81+326del	ENSP00000467587.1:n.81+326del
ENST00000589913.5:c.81+326del	ENSP00000464813.1:n.81+326del
ENST00000593262.1:n.739del
NM_000988.3:c.81+326del	NP_000979.1:n.81+326del
NM_000988.5:c.81+326del MANE Select	NP_000979.1:n.81+326del
NM_001349921.1:c.81+326del	NP_001336850.1:n.81+326del
NM_001349922.1:c.81+326del	NP_001336851.1:n.81+326del
NR_146327.1:n.164+326del
NM_001349921.2:c.81+326del	NP_001336850.1:n.81+326del
NM_001349922.2:c.81+326del	NP_001336851.1:n.81+326del
NR_146327.2:n.136+326del