Canonical Allele Identifier: CA2580097298

Gene: RPS19

Linked Data

• ClinVar Variation Id: 1797274
• ClinVar RCV Id: RCV002437899

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869146dup , CM000681.2:g.41869146dup	GRCh38
NC_000019.9:g.42373216dup , CM000681.1:g.42373216dup	GRCh37
NC_000019.8:g.47065056dup	NCBI36
NG_007080.2:g.14229dup
NG_007080.3:g.14229dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.288dup MANE Select	ENSP00000470972.1:p.Lys97GlnfsTer?
ENST00000600467.6:c.288dup	ENSP00000469228.2:p.Lys97GlnfsTer?
ENST00000221975.6:c.66dup	ENSP00000221975.2:p.Lys23GlnfsTer?
ENST00000593863.5:c.288dup	ENSP00000470004.1:p.Lys97GlnfsTer?
ENST00000598399.1:c.1126dup	ENSP00000472660.1:n.1126dup
ENST00000598742.5:c.288dup	ENSP00000470972.1:p.Lys97GlnfsTer?
NM_001022.3:c.288dup	NP_001013.1:p.Lys97GlnfsTer?
NM_001321483.1:c.288dup	NP_001308412.1:p.Lys97GlnfsTer?
NM_001321484.1:c.288dup	NP_001308413.1:p.Lys97GlnfsTer?
NM_001321485.1:c.301dup	NP_001308414.1:p.Gln101ProfsTer15
XM_017027113.2:c.288dup	XP_016882602.1:p.Lys97GlnfsTer?
NM_001022.4:c.288dup MANE Select	NP_001013.1:p.Lys97GlnfsTer?
NM_001321483.2:c.288dup	NP_001308412.1:p.Lys97GlnfsTer?
NM_001321484.2:c.288dup	NP_001308413.1:p.Lys97GlnfsTer?
NM_001321485.2:c.301dup	NP_001308414.1:p.Gln101ProfsTer15