Canonical Allele Identifier: CA2740097975

Gene: RPS19

Linked Data

• ClinVar Variation Id: 3065914
• ClinVar RCV Id: RCV003989369

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869044_41869045del , CM000681.2:g.41869044_41869045del	GRCh38
NC_000019.9:g.42373114_42373115del , CM000681.1:g.42373114_42373115del	GRCh37
NC_000019.8:g.47064954_47064955del	NCBI36
NG_007080.2:g.14127_14128del
NG_007080.3:g.14127_14128del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.199_200del	ENSP00000469798.1:p.Ala67ThrfsTer13
ENST00000598742.6:c.186_187del MANE Select	ENSP00000470972.1:p.His63ProfsTer?
ENST00000600467.6:c.186_187del	ENSP00000469228.2:p.His63ProfsTer?
ENST00000221975.6:c.-37_-36del	ENSP00000221975.2:n.-37_-36del
ENST00000593863.5:c.186_187del	ENSP00000470004.1:p.His63ProfsTer?
ENST00000598261.1:c.199_200del	ENSP00000469798.1:p.Ala67ThrfsTer13
ENST00000598399.1:c.1024_1025del	ENSP00000472660.1:n.1024_1025del
ENST00000598742.5:c.186_187del	ENSP00000470972.1:p.His63ProfsTer?
ENST00000600467.5:c.186_187del	ENSP00000469228.1:p.His63ProfsTer?
ENST00000601492.5:c.267_268del	ENSP00000471621.1:p.His90ProfsTer?
NM_001022.3:c.186_187del	NP_001013.1:p.His63ProfsTer?
NM_001321483.1:c.186_187del	NP_001308412.1:p.His63ProfsTer?
NM_001321484.1:c.186_187del	NP_001308413.1:p.His63ProfsTer?
NM_001321485.1:c.199_200del	NP_001308414.1:p.Ala67ThrfsTer13
XM_017027113.2:c.186_187del	XP_016882602.1:p.His63ProfsTer?
NM_001022.4:c.186_187del MANE Select	NP_001013.1:p.His63ProfsTer?
NM_001321483.2:c.186_187del	NP_001308412.1:p.His63ProfsTer?
NM_001321484.2:c.186_187del	NP_001308413.1:p.His63ProfsTer?
NM_001321485.2:c.199_200del	NP_001308414.1:p.Ala67ThrfsTer13