Canonical Allele Identifier: CA2580614906

Gene: RPS19

Linked Data

• ClinVar Variation Id: 1687347
• ClinVar RCV Id: RCV002251029
• dbSNP Id: rs1555841356

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869154_41869155del , CM000681.2:g.41869154_41869155del	GRCh38
NC_000019.9:g.42373224_42373225del , CM000681.1:g.42373224_42373225del	GRCh37
NC_000019.8:g.47065064_47065065del	NCBI36
NG_007080.2:g.14237_14238del
NG_007080.3:g.14237_14238del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.296_297del MANE Select	ENSP00000470972.1:p.Val99GlyfsTer?
ENST00000600467.6:c.296_297del	ENSP00000469228.2:p.Val99GlyfsTer?
ENST00000221975.6:c.74_75del	ENSP00000221975.2:p.Val25GlyfsTer?
ENST00000593863.5:c.296_297del	ENSP00000470004.1:p.Val99GlyfsTer?
ENST00000598399.1:c.1134_1135del	ENSP00000472660.1:n.1134_1135del
ENST00000598742.5:c.296_297del	ENSP00000470972.1:p.Val99GlyfsTer?
NM_001022.3:c.296_297del	NP_001013.1:p.Val99GlyfsTer?
NM_001321483.1:c.296_297del	NP_001308412.1:p.Val99GlyfsTer?
NM_001321484.1:c.296_297del	NP_001308413.1:p.Val99GlyfsTer?
NM_001321485.1:c.309_310del	NP_001308414.1:p.Cys103TrpfsTer12
XM_017027113.2:c.296_297del	XP_016882602.1:p.Val99GlyfsTer?
NM_001022.4:c.296_297del MANE Select	NP_001013.1:p.Val99GlyfsTer?
NM_001321483.2:c.296_297del	NP_001308412.1:p.Val99GlyfsTer?
NM_001321484.2:c.296_297del	NP_001308413.1:p.Val99GlyfsTer?
NM_001321485.2:c.309_310del	NP_001308414.1:p.Cys103TrpfsTer12