Canonical Allele Identifier: CA626076790

Gene: RPL27

Linked Data

• dbSNP Id: rs1362616067
• gnomAD v2: 17-41151185-CTT-C
• gnomAD v3: 17-42999168-CTT-C
• gnomAD v4: 17-42999168-CTT-C
• MyVariant Identifiers: chr17:g.41151189_41151190del (hg19) ; chr17:g.42999172_42999173del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999181_42999182del , CM000679.2:g.42999181_42999182del	GRCh38
NC_000017.10:g.41151198_41151199del , CM000679.1:g.41151198_41151199del	GRCh37
NC_000017.9:g.38404724_38404725del	NCBI36
NG_053099.1:g.5909_5910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+350_81+351del MANE Select	ENSP00000253788.5:n.81+350_81+351del
ENST00000589913.6:c.81+350_81+351del	ENSP00000464813.1:n.81+350_81+351del
ENST00000590864.2:c.82-5_82-4del	ENSP00000467939.2:n.82-5_82-4del
ENST00000253788.9:c.81+350_81+351del	ENSP00000253788.4:n.81+350_81+351del
ENST00000586277.5:c.104+269_104+270del
ENST00000587478.1:n.486_487del
ENST00000588830.1:c.81+350_81+351del	ENSP00000468468.1:n.81+350_81+351del
ENST00000589037.5:c.81+350_81+351del	ENSP00000467587.1:n.81+350_81+351del
ENST00000589913.5:c.81+350_81+351del	ENSP00000464813.1:n.81+350_81+351del
ENST00000593262.1:n.763_764del
NM_000988.3:c.81+350_81+351del	NP_000979.1:n.81+350_81+351del
NM_000988.5:c.81+350_81+351del MANE Select	NP_000979.1:n.81+350_81+351del
NM_001349921.1:c.81+350_81+351del	NP_001336850.1:n.81+350_81+351del
NM_001349922.1:c.81+350_81+351del	NP_001336851.1:n.81+350_81+351del
NR_146327.1:n.164+350_164+351del
NM_001349921.2:c.81+350_81+351del	NP_001336850.1:n.81+350_81+351del
NM_001349922.2:c.81+350_81+351del	NP_001336851.1:n.81+350_81+351del
NR_146327.2:n.136+350_136+351del