Canonical Allele Identifier: CA772167080

Gene: RPL27

Linked Data

• dbSNP Id: rs1185969896
• gnomAD v3: 17-42999205-TA-T
• gnomAD v4: 17-42999205-TA-T
• MyVariant Identifiers: chr17:g.41151223del (hg19) ; chr17:g.42999206del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999207del , CM000679.2:g.42999207del	GRCh38
NC_000017.10:g.41151224del , CM000679.1:g.41151224del	GRCh37
NC_000017.9:g.38404750del	NCBI36
NG_053099.1:g.5935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+376del MANE Select	ENSP00000253788.5:n.81+376del
ENST00000589913.6:c.81+376del	ENSP00000464813.1:n.81+376del
ENST00000590864.2:c.103del	ENSP00000467939.2:p.Ser35ValfsTer?
ENST00000253788.9:c.81+376del	ENSP00000253788.4:n.81+376del
ENST00000586277.5:c.104+295del
ENST00000587478.1:n.512del
ENST00000588830.1:c.81+376del	ENSP00000468468.1:n.81+376del
ENST00000589037.5:c.81+376del	ENSP00000467587.1:n.81+376del
ENST00000589913.5:c.81+376del	ENSP00000464813.1:n.81+376del
ENST00000593262.1:n.789del
NM_000988.3:c.81+376del	NP_000979.1:n.81+376del
NM_000988.5:c.81+376del MANE Select	NP_000979.1:n.81+376del
NM_001349921.1:c.81+376del	NP_001336850.1:n.81+376del
NM_001349922.1:c.81+376del	NP_001336851.1:n.81+376del
NR_146327.1:n.164+376del
NM_001349921.2:c.81+376del	NP_001336850.1:n.81+376del
NM_001349922.2:c.81+376del	NP_001336851.1:n.81+376del
NR_146327.2:n.136+376del