Canonical Allele Identifier: CA983862789

Gene: RPL27

Linked Data

• gnomAD v3: 17-42999168-C-CTTTTT
• gnomAD v4: 17-42999168-C-CTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999178_42999182dup , CM000679.2:g.42999178_42999182dup	GRCh38
NC_000017.10:g.41151195_41151199dup , CM000679.1:g.41151195_41151199dup	GRCh37
NC_000017.9:g.38404721_38404725dup	NCBI36
NG_053099.1:g.5906_5910dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+347_81+351dup MANE Select	ENSP00000253788.5:n.81+347_81+351dup
ENST00000589913.6:c.81+347_81+351dup	ENSP00000464813.1:n.81+347_81+351dup
ENST00000590864.2:c.82-8_82-4dup	ENSP00000467939.2:n.82-8_82-4dup
ENST00000253788.9:c.81+347_81+351dup	ENSP00000253788.4:n.81+347_81+351dup
ENST00000586277.5:c.104+266_104+270dup
ENST00000587478.1:n.483_487dup
ENST00000588830.1:c.81+347_81+351dup	ENSP00000468468.1:n.81+347_81+351dup
ENST00000589037.5:c.81+347_81+351dup	ENSP00000467587.1:n.81+347_81+351dup
ENST00000589913.5:c.81+347_81+351dup	ENSP00000464813.1:n.81+347_81+351dup
ENST00000593262.1:n.760_764dup
NM_000988.3:c.81+347_81+351dup	NP_000979.1:n.81+347_81+351dup
NM_000988.5:c.81+347_81+351dup MANE Select	NP_000979.1:n.81+347_81+351dup
NM_001349921.1:c.81+347_81+351dup	NP_001336850.1:n.81+347_81+351dup
NM_001349922.1:c.81+347_81+351dup	NP_001336851.1:n.81+347_81+351dup
NR_146327.1:n.164+347_164+351dup
NM_001349921.2:c.81+347_81+351dup	NP_001336850.1:n.81+347_81+351dup
NM_001349922.2:c.81+347_81+351dup	NP_001336851.1:n.81+347_81+351dup
NR_146327.2:n.136+347_136+351dup