Canonical Allele Identifier: CA500120727

Gene: RPL27

Linked Data

• dbSNP Id: rs1208475224
• gnomAD v2: 17-41151169-C-CCTTTT
• gnomAD v3: 17-42999152-C-CCTTTT
• gnomAD v4: 17-42999152-C-CCTTTT
• MyVariant Identifiers: chr17:g.41151174_41151175insCTTTT (hg19) ; chr17:g.41151169_41151170insCTTTT (hg19) ; chr17:g.42999157_42999158insCTTTT (hg38) ; chr17:g.42999152_42999153insCTTTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42999168_42999172dup , CM000679.2:g.42999168_42999172dup	GRCh38
NC_000017.10:g.41151185_41151189dup , CM000679.1:g.41151185_41151189dup	GRCh37
NC_000017.9:g.38404711_38404715dup	NCBI36
NG_053099.1:g.5896_5900dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253788.12:c.81+337_81+341dup MANE Select	ENSP00000253788.5:n.81+337_81+341dup
ENST00000589913.6:c.81+337_81+341dup	ENSP00000464813.1:n.81+337_81+341dup
ENST00000590864.2:c.82-18_82-14dup	ENSP00000467939.2:n.82-18_82-14dup
ENST00000253788.9:c.81+337_81+341dup	ENSP00000253788.4:n.81+337_81+341dup
ENST00000586277.5:c.104+256_104+260dup
ENST00000587478.1:n.473_477dup
ENST00000588830.1:c.81+337_81+341dup	ENSP00000468468.1:n.81+337_81+341dup
ENST00000589037.5:c.81+337_81+341dup	ENSP00000467587.1:n.81+337_81+341dup
ENST00000589913.5:c.81+337_81+341dup	ENSP00000464813.1:n.81+337_81+341dup
ENST00000593262.1:n.750_754dup
NM_000988.3:c.81+337_81+341dup	NP_000979.1:n.81+337_81+341dup
NM_000988.5:c.81+337_81+341dup MANE Select	NP_000979.1:n.81+337_81+341dup
NM_001349921.1:c.81+337_81+341dup	NP_001336850.1:n.81+337_81+341dup
NM_001349922.1:c.81+337_81+341dup	NP_001336851.1:n.81+337_81+341dup
NR_146327.1:n.164+337_164+341dup
NM_001349921.2:c.81+337_81+341dup	NP_001336850.1:n.81+337_81+341dup
NM_001349922.2:c.81+337_81+341dup	NP_001336851.1:n.81+337_81+341dup
NR_146327.2:n.136+337_136+341dup