Canonical Allele Identifier: CA996008870

Gene: RPS19

Linked Data

• dbSNP Id: rs2074117800
• gnomAD v3: 19-41869068-T-TGGGGTTGGCTCC
• gnomAD v4: 19-41869068-T-TGGGGTTGGCTCC

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869069_41869080dup , CM000681.2:g.41869069_41869080dup	GRCh38
NC_000019.9:g.42373139_42373150dup , CM000681.1:g.42373139_42373150dup	GRCh37
NC_000019.8:g.47064979_47064990dup	NCBI36
NG_007080.2:g.14152_14163dup
NG_007080.3:g.14152_14163dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.224_235dup	ENSP00000469798.1:p.Leu78_His79insArgGlyTrpLeu
ENST00000598742.6:c.211_222dup MANE Select	ENSP00000470972.1:p.Ser74_Met75insGlyValGlySer
ENST00000600467.6:c.211_222dup	ENSP00000469228.2:p.Ser74_Met75insGlyValGlySer
ENST00000221975.6:c.-12_-1dup	ENSP00000221975.2:p.Met1insGlyValGlySer
ENST00000593863.5:c.211_222dup	ENSP00000470004.1:p.Ser74_Met75insGlyValGlySer
ENST00000598261.1:c.224_235dup	ENSP00000469798.1:p.Leu78_His79insArgGlyTrpLeu
ENST00000598399.1:c.1049_1060dup	ENSP00000472660.1:n.1049_1060dup
ENST00000598742.5:c.211_222dup	ENSP00000470972.1:p.Ser74_Met75insGlyValGlySer
ENST00000600467.5:c.211_222dup	ENSP00000469228.1:p.Ser74_Met75insGlyValGlySer
ENST00000601492.5:c.292_303dup	ENSP00000471621.1:p.Ser101_Met102insGlyValGlySer
NM_001022.3:c.211_222dup	NP_001013.1:p.Ser74_Met75insGlyValGlySer
NM_001321483.1:c.211_222dup	NP_001308412.1:p.Ser74_Met75insGlyValGlySer
NM_001321484.1:c.211_222dup	NP_001308413.1:p.Ser74_Met75insGlyValGlySer
NM_001321485.1:c.224_235dup	NP_001308414.1:p.Leu78_His79insArgGlyTrpLeu
XM_017027113.2:c.211_222dup	XP_016882602.1:p.Ser74_Met75insGlyValGlySer
NM_001022.4:c.211_222dup MANE Select	NP_001013.1:p.Ser74_Met75insGlyValGlySer
NM_001321483.2:c.211_222dup	NP_001308412.1:p.Ser74_Met75insGlyValGlySer
NM_001321484.2:c.211_222dup	NP_001308413.1:p.Ser74_Met75insGlyValGlySer
NM_001321485.2:c.224_235dup	NP_001308414.1:p.Leu78_His79insArgGlyTrpLeu