Canonical Allele Identifier: CA2336664090

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41860726_41860729delinsCAGT , CM000681.2:g.41860726_41860729delinsCAGT	GRCh38
NC_000019.9:g.42364796_42364799delinsCAGT , CM000681.1:g.42364796_42364799delinsCAGT	GRCh37
NC_000019.8:g.47056636_47056639delinsCAGT	NCBI36
NG_007080.2:g.5809_5812delinsCAGT
NG_007080.3:g.5809_5812delinsCAGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.1-49_1-46delinsCAGT	ENSP00000469798.1:n.1-49_1-46delinsCAGT
ENST00000598742.6:c.1-49_1-46delinsCAGT MANE Select	ENSP00000470972.1:n.1-49_1-46delinsCAGT
ENST00000600467.6:c.1-49_1-46delinsCAGT	ENSP00000469228.2:n.1-49_1-46delinsCAGT
ENST00000221975.6:c.-212-59_-212-56delinsCAGT	ENSP00000221975.2:n.-212-59_-212-56delinsCAGT
ENST00000593863.5:c.1-49_1-46delinsCAGT	ENSP00000470004.1:n.1-49_1-46delinsCAGT
ENST00000598466.5:n.36-49_36-46delinsCAGT
ENST00000598742.5:c.1-49_1-46delinsCAGT	ENSP00000470972.1:n.1-49_1-46delinsCAGT
ENST00000600467.5:c.1-49_1-46delinsCAGT	ENSP00000469228.1:n.1-49_1-46delinsCAGT
ENST00000601492.5:c.1-49_1-46delinsCAGT	ENSP00000471621.1:n.1-49_1-46delinsCAGT
NM_001022.3:c.1-49_1-46delinsCAGT	NP_001013.1:n.1-49_1-46delinsCAGT
NM_001321483.1:c.1-49_1-46delinsCAGT	NP_001308412.1:n.1-49_1-46delinsCAGT
NM_001321484.1:c.1-49_1-46delinsCAGT	NP_001308413.1:n.1-49_1-46delinsCAGT
NM_001321485.1:c.1-49_1-46delinsCAGT	NP_001308414.1:n.1-49_1-46delinsCAGT
XM_017027113.2:c.1-49_1-46delinsCAGT	XP_016882602.1:n.1-49_1-46delinsCAGT
NM_001022.4:c.1-49_1-46delinsCAGT MANE Select	NP_001013.1:n.1-49_1-46delinsCAGT
NM_001321483.2:c.1-49_1-46delinsCAGT	NP_001308412.1:n.1-49_1-46delinsCAGT
NM_001321484.2:c.1-49_1-46delinsCAGT	NP_001308413.1:n.1-49_1-46delinsCAGT
NM_001321485.2:c.1-49_1-46delinsCAGT	NP_001308414.1:n.1-49_1-46delinsCAGT