Canonical Allele Identifier: CA560770903

Gene: RPS23 ATG10

Linked Data

• dbSNP Id: rs1217925622
• gnomAD v2: 5-81572353-C-CACA
• gnomAD v3: 5-82276534-C-CACA
• gnomAD v4: 5-82276534-C-CACA
• MyVariant Identifiers: chr5:g.81572353_81572354insACA (hg19) ; chr5:g.82276534_82276535insACA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.82276535_82276537dup , CM000667.2:g.82276535_82276537dup	GRCh38
NC_000005.9:g.81572354_81572356dup , CM000667.1:g.81572354_81572356dup	GRCh37
NC_000005.8:g.81608110_81608112dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296674.13:c.165-19_165-17dup (RPS23) MANE Select	ENSP00000296674.8:n.165-19_165-17dup
ENST00000651545.1:c.165-19_165-17dup (RPS23)	ENSP00000498621.1:n.165-19_165-17dup
ENST00000296674.12:c.165-19_165-17dup (RPS23)	ENSP00000296674.8:n.165-19_165-17dup
ENST00000503605.1:n.374-19_374-17dup (RPS23)
ENST00000504293.5:n.260-19_260-17dup (RPS23)
ENST00000507980.1:c.165-19_165-17dup (RPS23)	ENSP00000422071.1:n.165-19_165-17dup
ENST00000510019.5:c.165-19_165-17dup (RPS23)	ENSP00000425833.1:n.165-19_165-17dup
ENST00000510210.5:c.165-19_165-17dup (RPS23)	ENSP00000427043.1:n.165-19_165-17dup
ENST00000512493.5:c.165-19_165-17dup (RPS23)	ENSP00000425865.1:n.165-19_165-17dup
ENST00000514253.2:n.582_584dup (ATG10)
NM_001025.4:c.165-19_165-17dup (RPS23)	NP_001016.1:n.165-19_165-17dup
NM_001025.5:c.165-19_165-17dup (RPS23) MANE Select	NP_001016.1:n.165-19_165-17dup