Canonical Allele Identifier: CA626076792

Gene: RPL27

Linked Data

• dbSNP Id: rs1362616067
• gnomAD v2: 17-41151185-C-CT
• gnomAD v3: 17-42999168-C-CT
• gnomAD v4: 17-42999168-C-CT
• MyVariant Identifiers: chr17:g.41151190_41151191insT (hg19) ; chr17:g.41151185_41151186insT (hg19) ; chr17:g.42999173_42999174insT (hg38) ; chr17:g.42999168_42999169insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999182dup , CM000679.2:g.42999182dup	GRCh38
NC_000017.10:g.41151199dup , CM000679.1:g.41151199dup	GRCh37
NC_000017.9:g.38404725dup	NCBI36
NG_053099.1:g.5910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+351dup MANE Select	ENSP00000253788.5:n.81+351dup
ENST00000589913.6:c.81+351dup	ENSP00000464813.1:n.81+351dup
ENST00000590864.2:c.82-4dup	ENSP00000467939.2:n.82-4dup
ENST00000253788.9:c.81+351dup	ENSP00000253788.4:n.81+351dup
ENST00000586277.5:c.104+270dup
ENST00000587478.1:n.487dup
ENST00000588830.1:c.81+351dup	ENSP00000468468.1:n.81+351dup
ENST00000589037.5:c.81+351dup	ENSP00000467587.1:n.81+351dup
ENST00000589913.5:c.81+351dup	ENSP00000464813.1:n.81+351dup
ENST00000593262.1:n.764dup
NM_000988.3:c.81+351dup	NP_000979.1:n.81+351dup
NM_000988.5:c.81+351dup MANE Select	NP_000979.1:n.81+351dup
NM_001349921.1:c.81+351dup	NP_001336850.1:n.81+351dup
NM_001349922.1:c.81+351dup	NP_001336851.1:n.81+351dup
NR_146327.1:n.164+351dup
NM_001349921.2:c.81+351dup	NP_001336850.1:n.81+351dup
NM_001349922.2:c.81+351dup	NP_001336851.1:n.81+351dup
NR_146327.2:n.136+351dup