Canonical Allele Identifier: CA889550504

Gene: RPS27

Linked Data

• dbSNP Id: rs1228431503
• gnomAD v3: 1-153990917-A-AT
• gnomAD v4: 1-153990917-A-AT
• MyVariant Identifiers: chr1:g.153963393_153963394insT (hg19) ; chr1:g.153990917_153990918insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.153990919dup , CM000663.2:g.153990919dup	GRCh38
NC_000001.10:g.153963395dup , CM000663.1:g.153963395dup	GRCh37
NC_000001.9:g.152230019dup	NCBI36
NG_053102.2:g.5165dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000643794.1:c.12dup	ENSP00000495765.1:p.Asn5Ter
ENST00000651669.1:c.6+117dup MANE Select	ENSP00000499044.1:n.6+117dup
ENST00000368567.4:c.6+117dup	ENSP00000357555.4:n.6+117dup
ENST00000392558.4:c.6+117dup	ENSP00000376341.4:n.6+117dup
ENST00000477151.1:n.46dup
ENST00000493224.5:n.157dup
NM_001030.4:c.6+117dup	NP_001021.1:n.6+117dup
NM_001030.6:c.6+117dup MANE Select	NP_001021.1:n.6+117dup
NM_001349946.1:c.-206dup	NP_001336875.1:n.-206dup
NM_001349947.1:c.-206dup	NP_001336876.1:n.-206dup
NM_001349946.2:c.-206dup	NP_001336875.1:n.-206dup
NM_001349947.2:c.-206dup	NP_001336876.1:n.-206dup