Canonical Allele Identifier: CA2580097300

Gene: RPS19

Linked Data

• ClinVar Variation Id: 2007213
• ClinVar RCV Id: RCV002842155

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869205del , CM000681.2:g.41869205del	GRCh38
NC_000019.9:g.42373275del , CM000681.1:g.42373275del	GRCh37
NC_000019.8:g.47065115del	NCBI36
NG_007080.2:g.14288del
NG_007080.3:g.14288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.347del MANE Select	ENSP00000470972.1:p.Asp116AlafsTer8
ENST00000600467.6:c.347del	ENSP00000469228.2:p.Asp116AlafsTer8
ENST00000221975.6:c.125del	ENSP00000221975.2:p.Asp42AlafsTer8
ENST00000593863.5:c.347del	ENSP00000470004.1:p.Asp116AlafsTer8
ENST00000598742.5:c.347del	ENSP00000470972.1:p.Asp116AlafsTer8
NM_001022.3:c.347del	NP_001013.1:p.Asp116AlafsTer8
NM_001321483.1:c.347del	NP_001308412.1:p.Asp116AlafsTer8
NM_001321484.1:c.347del	NP_001308413.1:p.Asp116AlafsTer8
NM_001321485.1:c.360del	NP_001308414.1:p.Pro121GlnfsTer?
XM_017027113.2:c.347del	XP_016882602.1:p.Asp116AlafsTer8
NM_001022.4:c.347del MANE Select	NP_001013.1:p.Asp116AlafsTer8
NM_001321483.2:c.347del	NP_001308412.1:p.Asp116AlafsTer8
NM_001321484.2:c.347del	NP_001308413.1:p.Asp116AlafsTer8
NM_001321485.2:c.360del	NP_001308414.1:p.Pro121GlnfsTer?