Canonical Allele Identifier: CA1139666470

Gene: RPS19

Linked Data

• ClinVar Variation Id: 977494
• ClinVar RCV Id: RCV001255169
• dbSNP Id: rs2074119405

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869153_41869154delinsCAGCCGA , CM000681.2:g.41869153_41869154delinsCAGCCGA	GRCh38
NC_000019.9:g.42373223_42373224delinsCAGCCGA , CM000681.1:g.42373223_42373224delinsCAGCCGA	GRCh37
NC_000019.8:g.47065063_47065064delinsCAGCCGA	NCBI36
NG_007080.2:g.14236_14237delinsCAGCCGA
NG_007080.3:g.14236_14237delinsCAGCCGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.295_296delinsCAGCCGA MANE Select	ENSP00000470972.1:p.Val99GlnfsTer14
ENST00000600467.6:c.295_296delinsCAGCCGA	ENSP00000469228.2:p.Val99GlnfsTer14
ENST00000221975.6:c.73_74delinsCAGCCGA	ENSP00000221975.2:p.Val25GlnfsTer14
ENST00000593863.5:c.295_296delinsCAGCCGA	ENSP00000470004.1:p.Val99GlnfsTer14
ENST00000598399.1:c.1133_1134delinsCAGCCGA	ENSP00000472660.1:n.1133_1134delinsCAGCCGA
ENST00000598742.5:c.295_296delinsCAGCCGA	ENSP00000470972.1:p.Val99GlnfsTer14
NM_001022.3:c.295_296delinsCAGCCGA	NP_001013.1:p.Val99GlnfsTer14
NM_001321483.1:c.295_296delinsCAGCCGA	NP_001308412.1:p.Val99GlnfsTer14
NM_001321484.1:c.295_296delinsCAGCCGA	NP_001308413.1:p.Val99GlnfsTer14
NM_001321485.1:c.308_309delinsCAGCCGA	NP_001308414.1:p.Cys103SerfsTer?
XM_017027113.2:c.295_296delinsCAGCCGA	XP_016882602.1:p.Val99GlnfsTer14
NM_001022.4:c.295_296delinsCAGCCGA MANE Select	NP_001013.1:p.Val99GlnfsTer14
NM_001321483.2:c.295_296delinsCAGCCGA	NP_001308412.1:p.Val99GlnfsTer14
NM_001321484.2:c.295_296delinsCAGCCGA	NP_001308413.1:p.Val99GlnfsTer14
NM_001321485.2:c.308_309delinsCAGCCGA	NP_001308414.1:p.Cys103SerfsTer?