Canonical Allele Identifier: CA2674480829

Gene: RPS23 ATG10

Linked Data

• gnomAD v4: 5-82276378-G-GATAGAGTTGAAATACTCACCTCAATA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.82276380_82276405dup , CM000667.2:g.82276380_82276405dup	GRCh38
NC_000005.9:g.81572199_81572224dup , CM000667.1:g.81572199_81572224dup	GRCh37
NC_000005.8:g.81607955_81607980dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296674.13:c.279_285+19dup (RPS23)
ENST00000651545.1:c.279_285+19dup (RPS23)
ENST00000296674.12:c.279_285+19dup (RPS23)
ENST00000503605.1:n.488_494+19dup (RPS23)
ENST00000504293.5:n.374_380+19dup (RPS23)
ENST00000507980.1:c.279_304dup (RPS23)	ENSP00000422071.1:p.Ser102LeufsTer4
ENST00000510019.5:c.232+47_232+72dup (RPS23)	ENSP00000425833.1:n.232+47_232+72dup
ENST00000510210.5:c.279_285+19dup (RPS23)
ENST00000512493.5:c.279_285+19dup (RPS23)
ENST00000514253.2:n.427_452dup (ATG10)
NM_001025.4:c.279_285+19dup (RPS23)
NM_001025.5:c.279_285+19dup (RPS23)