Canonical Allele Identifier: CA772166990

Gene: RPL27

Linked Data

• dbSNP Id: rs1240168700
• gnomAD v3: 17-42998965-GT-G
• gnomAD v4: 17-42998965-GT-G
• MyVariant Identifiers: chr17:g.41150983del (hg19) ; chr17:g.42998966del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998970del , CM000679.2:g.42998970del	GRCh38
NC_000017.10:g.41150987del , CM000679.1:g.41150987del	GRCh37
NC_000017.9:g.38404513del	NCBI36
NG_053099.1:g.5698del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+139del MANE Select	ENSP00000253788.5:n.81+139del
ENST00000589913.6:c.81+139del	ENSP00000464813.1:n.81+139del
ENST00000590864.2:c.81+139del	ENSP00000467939.2:n.81+139del
ENST00000253788.9:c.81+139del	ENSP00000253788.4:n.81+139del
ENST00000586277.5:c.104+58del
ENST00000587478.1:n.275del
ENST00000588830.1:c.81+139del	ENSP00000468468.1:n.81+139del
ENST00000589037.5:c.81+139del	ENSP00000467587.1:n.81+139del
ENST00000589913.5:c.81+139del	ENSP00000464813.1:n.81+139del
ENST00000593262.1:n.552del
NM_000988.3:c.81+139del	NP_000979.1:n.81+139del
NM_000988.5:c.81+139del MANE Select	NP_000979.1:n.81+139del
NM_001349921.1:c.81+139del	NP_001336850.1:n.81+139del
NM_001349922.1:c.81+139del	NP_001336851.1:n.81+139del
NR_146327.1:n.164+139del
NM_001349921.2:c.81+139del	NP_001336850.1:n.81+139del
NM_001349922.2:c.81+139del	NP_001336851.1:n.81+139del
NR_146327.2:n.136+139del