Canonical Allele Identifier: CA2695228819

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869106dup , CM000681.2:g.41869106dup	GRCh38
NC_000019.9:g.42373176dup , CM000681.1:g.42373176dup	GRCh37
NC_000019.8:g.47065016dup	NCBI36
NG_007080.2:g.14189dup
NG_007080.3:g.14189dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.261dup	ENSP00000469798.1:p.Glu88ArgfsTer?
ENST00000598742.6:c.248dup MANE Select	ENSP00000470972.1:p.Arg84GlufsTer?
ENST00000600467.6:c.248dup	ENSP00000469228.2:p.Arg84GlufsTer?
ENST00000221975.6:c.26dup	ENSP00000221975.2:p.Arg10GlufsTer?
ENST00000593863.5:c.248dup	ENSP00000470004.1:p.Arg84GlufsTer?
ENST00000598261.1:c.261dup	ENSP00000469798.1:p.Glu88ArgfsTer?
ENST00000598399.1:c.1086dup	ENSP00000472660.1:n.1086dup
ENST00000598742.5:c.248dup	ENSP00000470972.1:p.Arg84GlufsTer?
NM_001022.3:c.248dup	NP_001013.1:p.Arg84GlufsTer?
NM_001321483.1:c.248dup	NP_001308412.1:p.Arg84GlufsTer?
NM_001321484.1:c.248dup	NP_001308413.1:p.Arg84GlufsTer?
NM_001321485.1:c.261dup	NP_001308414.1:p.Glu88ArgfsTer28
XM_017027113.2:c.248dup	XP_016882602.1:p.Arg84GlufsTer?
NM_001022.4:c.248dup MANE Select	NP_001013.1:p.Arg84GlufsTer?
NM_001321483.2:c.248dup	NP_001308412.1:p.Arg84GlufsTer?
NM_001321484.2:c.248dup	NP_001308413.1:p.Arg84GlufsTer?
NM_001321485.2:c.261dup	NP_001308414.1:p.Glu88ArgfsTer28