Canonical Allele Identifier: CA2638054646

Gene: RPL27

Linked Data

• gnomAD v4: 17-42999164-TTTTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999168_42999171del , CM000679.2:g.42999168_42999171del	GRCh38
NC_000017.10:g.41151185_41151188del , CM000679.1:g.41151185_41151188del	GRCh37
NC_000017.9:g.38404711_38404714del	NCBI36
NG_053099.1:g.5896_5899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+337_81+340del MANE Select	ENSP00000253788.5:n.81+337_81+340del
ENST00000589913.6:c.81+337_81+340del	ENSP00000464813.1:n.81+337_81+340del
ENST00000590864.2:c.82-18_82-15del	ENSP00000467939.2:n.82-18_82-15del
ENST00000253788.9:c.81+337_81+340del	ENSP00000253788.4:n.81+337_81+340del
ENST00000586277.5:c.104+256_104+259del
ENST00000587478.1:n.473_476del
ENST00000588830.1:c.81+337_81+340del	ENSP00000468468.1:n.81+337_81+340del
ENST00000589037.5:c.81+337_81+340del	ENSP00000467587.1:n.81+337_81+340del
ENST00000589913.5:c.81+337_81+340del	ENSP00000464813.1:n.81+337_81+340del
ENST00000593262.1:n.750_753del
NM_000988.3:c.81+337_81+340del	NP_000979.1:n.81+337_81+340del
NM_000988.5:c.81+337_81+340del MANE Select	NP_000979.1:n.81+337_81+340del
NM_001349921.1:c.81+337_81+340del	NP_001336850.1:n.81+337_81+340del
NM_001349922.1:c.81+337_81+340del	NP_001336851.1:n.81+337_81+340del
NR_146327.1:n.164+337_164+340del
NM_001349921.2:c.81+337_81+340del	NP_001336850.1:n.81+337_81+340del
NM_001349922.2:c.81+337_81+340del	NP_001336851.1:n.81+337_81+340del
NR_146327.2:n.136+337_136+340del