Canonical Allele Identifier: CA2580063317

Gene: RPL5 DIPK1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833644del , CM000663.2:g.92833644del	GRCh38
NC_000001.10:g.93299201del , CM000663.1:g.93299201del	GRCh37
NC_000001.9:g.93071789del	NCBI36
NG_011779.1:g.6608del
NG_033051.1:g.132879del
NG_011779.2:g.6659del

Transcript Alleles

HGVS	Amino-acid Change
NM_000969.5:c.173del (RPL5) MANE Select	NP_000960.2:p.Arg58LysfsTer12
ENST00000370321.8:c.173del (RPL5) MANE Select	ENSP00000359345.2:p.Arg58LysfsTer12
NM_000969.3:c.173del (RPL5)	NP_000960.2:p.Arg58LysfsTer12
NM_001252273.1:c.475-610del (DIPK1A)	NP_001239202.1:n.475-610del
NM_001252273.2:c.475-610del (DIPK1A)	NP_001239202.1:n.475-610del
NR_146333.1:n.302del (RPL5)
ENST00000315741.5:c.23del (RPL5)	ENSP00000359338.2:p.Arg8LysfsTer12
ENST00000370321.7:c.173del (RPL5)	ENSP00000359345.2:p.Arg58LysfsTer12
ENST00000461952.1:n.883del (RPL5)
ENST00000470843.5:c.173del (RPL5)	ENSP00000473675.1:p.Arg58LysfsTer?
ENST00000615519.4:c.475-610del (DIPK1A)	ENSP00000483279.1:n.475-610del
ENST00000645119.1:c.173del (RPL5)	ENSP00000493811.1:p.Arg58LysfsTer12
ENST00000645300.1:c.23del (RPL5)	ENSP00000495589.1:p.Arg8LysfsTer12
ENST00000646852.1:n.202del (RPL5)