Canonical Allele Identifier: CA2697552490

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 2730891
• ClinVar RCV Id: RCV003508732

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833456del , CM000663.2:g.92833456del	GRCh38
NC_000001.10:g.93299013del , CM000663.1:g.93299013del	GRCh37
NC_000001.9:g.93071601del	NCBI36
NG_011779.1:g.6420del
NG_033051.1:g.133067del
NG_011779.2:g.6471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.71del (RPL5) MANE Select	ENSP00000359345.2:p.Arg24GlnfsTer14
ENST00000645119.1:c.71del (RPL5)	ENSP00000493811.1:p.Arg24GlnfsTer14
ENST00000645300.1:c.-77-89del (RPL5)	ENSP00000495589.1:n.-77-89del
ENST00000646852.1:n.100del (RPL5)
ENST00000315741.5:c.-80del (RPL5)	ENSP00000359338.2:n.-80del
ENST00000370321.7:c.71del (RPL5)	ENSP00000359345.2:p.Arg24GlnfsTer14
ENST00000461952.1:n.695del (RPL5)
ENST00000470843.5:c.71del (RPL5)	ENSP00000473675.1:p.Arg24GlnfsTer14
ENST00000615519.4:c.475-422del (DIPK1A)	ENSP00000483279.1:n.475-422del
NM_000969.3:c.71del (RPL5)	NP_000960.2:p.Arg24GlnfsTer14
NM_001252273.1:c.475-422del (DIPK1A)	NP_001239202.1:n.475-422del
NM_000969.5:c.71del (RPL5) MANE Select	NP_000960.2:p.Arg24GlnfsTer14
NR_146333.1:n.200del (RPL5)
NM_001252273.2:c.475-422del (DIPK1A)	NP_001239202.1:n.475-422del