Canonical Allele Identifier: CA626076675

Gene: RPL27

Linked Data

• dbSNP Id: rs1445285231
• gnomAD v2: 17-41150568-GC-G
• gnomAD v3: 17-42998551-GC-G
• gnomAD v4: 17-42998551-GC-G
• MyVariant Identifiers: chr17:g.41150569del (hg19) ; chr17:g.42998552del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42998552del , CM000679.2:g.42998552del	GRCh38
NC_000017.10:g.41150569del , CM000679.1:g.41150569del	GRCh37
NC_000017.9:g.38404095del	NCBI36
NG_053099.1:g.5280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.-3+81del MANE Select	ENSP00000253788.5:n.-3+81del
ENST00000589913.6:c.-199del	ENSP00000464813.1:n.-199del
ENST00000253788.9:c.-3+81del	ENSP00000253788.4:n.-3+81del
ENST00000587478.1:n.53+81del
ENST00000588830.1:c.-3+81del	ENSP00000468468.1:n.-3+81del
ENST00000589037.5:c.-3+137del	ENSP00000467587.1:n.-3+137del
ENST00000589913.5:c.-199del	ENSP00000464813.1:n.-199del
ENST00000593262.1:n.134del
NM_000988.3:c.-3+81del	NP_000979.1:n.-3+81del
NM_000988.5:c.-3+81del MANE Select	NP_000979.1:n.-3+81del
NM_001349921.1:c.-3+137del	NP_001336850.1:n.-3+137del
NM_001349922.1:c.-199del	NP_001336851.1:n.-199del
NR_146327.1:n.81+81del
NM_001349921.2:c.-3+137del	NP_001336850.1:n.-3+137del
NM_001349922.2:c.-199del	NP_001336851.1:n.-199del
NR_146327.2:n.53+81del