Canonical Allele Identifier: CA2695228831

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869201_41869202dup , CM000681.2:g.41869201_41869202dup	GRCh38
NC_000019.9:g.42373271_42373272dup , CM000681.1:g.42373271_42373272dup	GRCh37
NC_000019.8:g.47065111_47065112dup	NCBI36
NG_007080.2:g.14284_14285dup
NG_007080.3:g.14284_14285dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000598742.6:c.343_344dup MANE Select	ENSP00000470972.1:p.Asp116ArgfsTer9
ENST00000600467.6:c.343_344dup	ENSP00000469228.2:p.Asp116ArgfsTer9
ENST00000221975.6:c.121_122dup	ENSP00000221975.2:p.Asp42ArgfsTer9
ENST00000593863.5:c.343_344dup	ENSP00000470004.1:p.Asp116ArgfsTer9
ENST00000598742.5:c.343_344dup	ENSP00000470972.1:p.Asp116ArgfsTer9
NM_001022.3:c.343_344dup	NP_001013.1:p.Asp116ArgfsTer9
NM_001321483.1:c.343_344dup	NP_001308412.1:p.Asp116ArgfsTer9
NM_001321484.1:c.343_344dup	NP_001308413.1:p.Asp116ArgfsTer9
NM_001321485.1:c.356_357dup	NP_001308414.1:p.Gly120LysfsTer?
XM_017027113.2:c.343_344dup	XP_016882602.1:p.Asp116ArgfsTer9
NM_001022.4:c.343_344dup MANE Select	NP_001013.1:p.Asp116ArgfsTer9
NM_001321483.2:c.343_344dup	NP_001308412.1:p.Asp116ArgfsTer9
NM_001321484.2:c.343_344dup	NP_001308413.1:p.Asp116ArgfsTer9
NM_001321485.2:c.356_357dup	NP_001308414.1:p.Gly120LysfsTer?