Canonical Allele Identifier: CA10602760

Gene: RPL11

Linked Data

• ClinVar Variation Id: 280297
• ClinVar RCV Id: RCV000284941
• dbSNP Id: rs886041528
• MyVariant Identifiers: chr1:g.24019208dupT (hg19) ; chr1:g.23692718dupT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.23692718dup , CM000663.2:g.23692718dup	GRCh38
NC_000001.10:g.24019208dup , CM000663.1:g.24019208dup	GRCh37
NC_000001.9:g.23891795dup	NCBI36
NG_011741.1:g.5915dup
NG_011741.2:g.5940dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000374550.8:c.113dup	ENSP00000363676.4:p.Leu39ValfsTer15
ENST00000443624.6:n.134dup
ENST00000458455.2:c.83dup	ENSP00000398888.2:p.Leu29ValfsTer15
ENST00000467075.2:c.*212dup	ENSP00000493634.1:n.*212dup
ENST00000482370.2:n.110dup
ENST00000643754.2:c.116dup MANE Select	ENSP00000496250.1:p.Leu40ValfsTer15
ENST00000374550.7:c.116dup	ENSP00000363676.3:p.Leu40ValfsTer15
ENST00000443624.5:c.110dup	ENSP00000390839.1:p.Leu38ValfsTer15
ENST00000458455.1:c.110dup	ENSP00000398888.1:p.Leu38ValfsTer15
ENST00000467075.1:n.336dup
ENST00000482370.1:n.413dup
NM_000975.3:c.116dup	NP_000966.2:p.Leu40ValfsTer15
NM_001199802.1:c.113dup	NP_001186731.1:p.Leu39ValfsTer15
NM_000975.5:c.116dup MANE Select	NP_000966.2:p.Leu40ValfsTer15