Canonical Allele Identifier: CA2695228818
Gene: RPS19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869109_41869110del , CM000681.2:g.41869109_41869110del GRCh38
NC_000019.9:g.42373179_42373180del , CM000681.1:g.42373179_42373180del GRCh37
NC_000019.8:g.47065019_47065020del NCBI36
NG_007080.2:g.14192_14193del
NG_007080.3:g.14192_14193del

Transcript Alleles

HGVS Amino-acid change
ENST00000598261.2:c.264_265del ENSP00000469798.1:p.Lys89ThrfsTer?
ENST00000598742.6:c.251_252del MANE Select ENSP00000470972.1:p.Arg84LysfsTer?
ENST00000600467.6:c.251_252del ENSP00000469228.2:p.Arg84LysfsTer?
ENST00000221975.6:c.29_30del ENSP00000221975.2:p.Arg10LysfsTer?
ENST00000593863.5:c.251_252del ENSP00000470004.1:p.Arg84LysfsTer?
ENST00000598261.1:c.264_265del ENSP00000469798.1:p.Lys89ThrfsTer?
ENST00000598399.1:c.1089_1090del ENSP00000472660.1:n.1089_1090del
ENST00000598742.5:c.251_252del ENSP00000470972.1:p.Arg84LysfsTer?
NM_001022.3:c.251_252del NP_001013.1:p.Arg84LysfsTer?
NM_001321483.1:c.251_252del NP_001308412.1:p.Arg84LysfsTer?
NM_001321484.1:c.251_252del NP_001308413.1:p.Arg84LysfsTer?
NM_001321485.1:c.264_265del NP_001308414.1:p.Lys89ThrfsTer26
XM_017027113.2:c.251_252del XP_016882602.1:p.Arg84LysfsTer?
NM_001022.4:c.251_252del MANE Select NP_001013.1:p.Arg84LysfsTer?
NM_001321483.2:c.251_252del NP_001308412.1:p.Arg84LysfsTer?
NM_001321484.2:c.251_252del NP_001308413.1:p.Arg84LysfsTer?
NM_001321485.2:c.264_265del NP_001308414.1:p.Lys89ThrfsTer26