Canonical Allele Identifier: CA626076793

Gene: RPL27

Linked Data

• dbSNP Id: rs1567737423
• gnomAD v2: 17-41151190-T-TTTTC
• gnomAD v3: 17-42999173-T-TTTTC
• gnomAD v4: 17-42999173-T-TTTTC
• MyVariant Identifiers: chr17:g.41151190_41151191insTTTC (hg19) ; chr17:g.42999173_42999174insTTTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999176_42999177insCTTT , CM000679.2:g.42999176_42999177insCTTT	GRCh38
NC_000017.10:g.41151193_41151194insCTTT , CM000679.1:g.41151193_41151194insCTTT	GRCh37
NC_000017.9:g.38404719_38404720insCTTT	NCBI36
NG_053099.1:g.5904_5905insCTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+345_81+346insCTTT MANE Select	ENSP00000253788.5:n.81+345_81+346insCTTT
ENST00000589913.6:c.81+345_81+346insCTTT	ENSP00000464813.1:n.81+345_81+346insCTTT
ENST00000590864.2:c.82-10_82-9insCTTT	ENSP00000467939.2:n.82-10_82-9insCTTT
ENST00000253788.9:c.81+345_81+346insCTTT	ENSP00000253788.4:n.81+345_81+346insCTTT
ENST00000586277.5:c.104+264_104+265insCTTT
ENST00000587478.1:n.481_482insCTTT
ENST00000588830.1:c.81+345_81+346insCTTT	ENSP00000468468.1:n.81+345_81+346insCTTT
ENST00000589037.5:c.81+345_81+346insCTTT	ENSP00000467587.1:n.81+345_81+346insCTTT
ENST00000589913.5:c.81+345_81+346insCTTT	ENSP00000464813.1:n.81+345_81+346insCTTT
ENST00000593262.1:n.758_759insCTTT
NM_000988.3:c.81+345_81+346insCTTT	NP_000979.1:n.81+345_81+346insCTTT
NM_000988.5:c.81+345_81+346insCTTT MANE Select	NP_000979.1:n.81+345_81+346insCTTT
NM_001349921.1:c.81+345_81+346insCTTT	NP_001336850.1:n.81+345_81+346insCTTT
NM_001349922.1:c.81+345_81+346insCTTT	NP_001336851.1:n.81+345_81+346insCTTT
NR_146327.1:n.164+345_164+346insCTTT
NM_001349921.2:c.81+345_81+346insCTTT	NP_001336850.1:n.81+345_81+346insCTTT
NM_001349922.2:c.81+345_81+346insCTTT	NP_001336851.1:n.81+345_81+346insCTTT
NR_146327.2:n.136+345_136+346insCTTT