Canonical Allele Identifier: CA130506

Gene: RPL26

Linked Data

• ClinVar Variation Id: 39740
• ClinVar RCV Id: RCV000032955
• dbSNP Id: rs397518451
• MyVariant Identifiers: chr17:g.8285508_8285509del (hg19) ; chr17:g.8382190_8382191del (hg38)
• PubMed: PMID:22431104

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.8382191_8382192del , CM000679.2:g.8382191_8382192del	GRCh38
NC_000017.10:g.8285509_8285510del , CM000679.1:g.8285509_8285510del	GRCh37
NC_000017.9:g.8226234_8226235del	NCBI36
NG_031989.1:g.6057_6058del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000583011.6:c.120_121del	ENSP00000462322.1:p.Lys41ValfsTer12
ENST00000584164.6:c.120_121del	ENSP00000463784.1:p.Lys41ValfsTer12
ENST00000584343.6:c.120_121del	ENSP00000464239.1:p.Lys41ValfsTer12
ENST00000584906.6:c.120_121del	ENSP00000462619.1:p.Lys41ValfsTer12
ENST00000648839.1:c.120_121del MANE Select	ENSP00000498177.1:p.Lys41ValfsTer12
ENST00000293842.9:c.120_121del	ENSP00000293842.5:p.Lys41ValfsTer12
ENST00000578115.1:n.162_163del
ENST00000578812.5:c.120_121del	ENSP00000463910.1:p.Lys41ValfsTer12
ENST00000582471.1:c.120_121del	ENSP00000463847.1:p.Lys41ValfsTer12
ENST00000582485.5:c.119_120del
ENST00000582556.5:c.120_121del	ENSP00000463470.1:p.Lys41ValfsTer12
ENST00000583011.5:c.120_121del	ENSP00000462322.1:p.Lys41ValfsTer12
ENST00000583515.1:c.120_121del	ENSP00000463021.1:p.Lys41ValfsTer12
ENST00000584164.5:c.120_121del	ENSP00000463784.1:p.Lys41ValfsTer12
ENST00000584343.5:c.120_121del	ENSP00000464239.1:p.Lys41ValfsTer12
ENST00000584906.5:c.120_121del	ENSP00000462619.1:p.Lys41ValfsTer12
ENST00000585176.1:n.37-101_37-100del
NM_000987.3:c.120_121del	NP_000978.1:p.Lys41ValfsTer12
NM_001315530.1:c.120_121del	NP_001302459.1:p.Lys41ValfsTer12
NM_001315531.1:c.120_121del	NP_001302460.1:p.Lys41ValfsTer12
NM_000987.5:c.120_121del MANE Select	NP_000978.1:p.Lys41ValfsTer12
NM_001315530.2:c.120_121del	NP_001302459.1:p.Lys41ValfsTer12
NM_001315531.2:c.120_121del	NP_001302460.1:p.Lys41ValfsTer12