Canonical Allele Identifier: CA308567866

Gene: RPS19

Linked Data

• dbSNP Id: rs754925301
• gnomAD v2: 19-42372918-TTGTC-T
• gnomAD v3: 19-41868848-TTGTC-T
• gnomAD v4: 19-41868848-TTGTC-T
• MyVariant Identifiers: chr19:g.42372919_42372922del (hg19) ; chr19:g.41868849_41868852del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41868849_41868852del , CM000681.2:g.41868849_41868852del	GRCh38
NC_000019.9:g.42372919_42372922del , CM000681.1:g.42372919_42372922del	GRCh37
NC_000019.8:g.47064759_47064762del	NCBI36
NG_007080.2:g.13932_13935del
NG_007080.3:g.13932_13935del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.186-182_186-179del	ENSP00000469798.1:n.186-182_186-179del
ENST00000598742.6:c.173-182_173-179del MANE Select	ENSP00000470972.1:n.173-182_173-179del
ENST00000600467.6:c.173-182_173-179del	ENSP00000469228.2:n.173-182_173-179del
ENST00000221975.6:c.-50-182_-50-179del	ENSP00000221975.2:n.-50-182_-50-179del
ENST00000593863.5:c.173-182_173-179del	ENSP00000470004.1:n.173-182_173-179del
ENST00000598261.1:c.186-182_186-179del	ENSP00000469798.1:n.186-182_186-179del
ENST00000598399.1:c.1011-182_1011-179del	ENSP00000472660.1:n.1011-182_1011-179del
ENST00000598742.5:c.173-182_173-179del	ENSP00000470972.1:n.173-182_173-179del
ENST00000600467.5:c.173-182_173-179del	ENSP00000469228.1:n.173-182_173-179del
ENST00000601492.5:c.254-182_254-179del	ENSP00000471621.1:n.254-182_254-179del
NM_001022.3:c.173-182_173-179del	NP_001013.1:n.173-182_173-179del
NM_001321483.1:c.173-182_173-179del	NP_001308412.1:n.173-182_173-179del
NM_001321484.1:c.173-182_173-179del	NP_001308413.1:n.173-182_173-179del
NM_001321485.1:c.186-182_186-179del	NP_001308414.1:n.186-182_186-179del
XM_017027113.2:c.173-182_173-179del	XP_016882602.1:n.173-182_173-179del
NM_001022.4:c.173-182_173-179del MANE Select	NP_001013.1:n.173-182_173-179del
NM_001321483.2:c.173-182_173-179del	NP_001308412.1:n.173-182_173-179del
NM_001321484.2:c.173-182_173-179del	NP_001308413.1:n.173-182_173-179del
NM_001321485.2:c.186-182_186-179del	NP_001308414.1:n.186-182_186-179del