Canonical Allele Identifier: CA247196830

Gene: RPL21

Linked Data

• dbSNP Id: rs542436754
• gnomAD v2: 13-27828154-C-CT
• gnomAD v3: 13-27254017-C-CT
• gnomAD v4: 13-27254017-C-CT
• MyVariant Identifiers: chr13:g.27828154_27828155insT (hg19) ; chr13:g.27254017_27254018insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.27254018dup , CM000675.2:g.27254018dup	GRCh38
NC_000013.10:g.27828155dup , CM000675.1:g.27828155dup	GRCh37
NC_000013.9:g.26726155dup	NCBI36
NG_046927.1:g.7464dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000311549.11:c.67+175dup MANE Select	ENSP00000346027.4:n.67+175dup
ENST00000272274.8:c.67+175dup	ENSP00000351021.2:n.67+175dup
ENST00000311549.10:c.67+175dup	ENSP00000346027.4:n.67+175dup
ENST00000319826.8:c.67+175dup	ENSP00000370574.1:n.67+175dup
ENST00000326092.8:c.67+175dup	ENSP00000370569.1:n.67+175dup
ENST00000461690.5:c.67+175dup	ENSP00000434298.1:n.67+175dup
ENST00000466550.1:n.79+175dup
ENST00000473558.5:n.303+175dup
ENST00000483765.5:c.67+175dup	ENSP00000473246.1:n.67+175dup
ENST00000493317.1:c.67+175dup	ENSP00000471695.1:n.67+175dup
NM_000982.3:c.67+175dup	NP_000973.2:n.67+175dup
NM_000982.4:c.67+175dup MANE Select	NP_000973.2:n.67+175dup