Canonical Allele Identifier: CA2573332762

Gene: RPS19

Linked Data

• ClinVar Variation Id: 2412767
• ClinVar RCV Id: RCV002790030

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869174del , CM000681.2:g.41869174del	GRCh38
NC_000019.9:g.42373244del , CM000681.1:g.42373244del	GRCh37
NC_000019.8:g.47065084del	NCBI36
NG_007080.2:g.14257del
NG_007080.3:g.14257del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.316del MANE Select	ENSP00000470972.1:p.Ala106ProfsTer5
ENST00000600467.6:c.316del	ENSP00000469228.2:p.Ala106ProfsTer5
ENST00000221975.6:c.94del	ENSP00000221975.2:p.Ala32ProfsTer5
ENST00000593863.5:c.316del	ENSP00000470004.1:p.Ala106ProfsTer5
ENST00000598399.1:c.1154del	ENSP00000472660.1:n.1154del
ENST00000598742.5:c.316del	ENSP00000470972.1:p.Ala106ProfsTer5
NM_001022.3:c.316del	NP_001013.1:p.Ala106ProfsTer5
NM_001321483.1:c.316del	NP_001308412.1:p.Ala106ProfsTer5
NM_001321484.1:c.316del	NP_001308413.1:p.Ala106ProfsTer5
NM_001321485.1:c.329del	NP_001308414.1:p.Ser110ThrfsTer?
XM_017027113.2:c.316del	XP_016882602.1:p.Ala106ProfsTer5
NM_001022.4:c.316del MANE Select	NP_001013.1:p.Ala106ProfsTer5
NM_001321483.2:c.316del	NP_001308412.1:p.Ala106ProfsTer5
NM_001321484.2:c.316del	NP_001308413.1:p.Ala106ProfsTer5
NM_001321485.2:c.329del	NP_001308414.1:p.Ser110ThrfsTer?