Canonical Allele Identifier: CA2586966842

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837459_92837490del , CM000663.2:g.92837459_92837490del GRCh38
NC_000001.10:g.93303016_93303047del , CM000663.1:g.93303016_93303047del GRCh37
NC_000001.9:g.93075604_93075635del NCBI36
NG_011779.1:g.10423_10454del
NG_033051.1:g.129033_129064del
NG_011779.2:g.10474_10505del

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.531_562del (RPL5) MANE Select ENSP00000359345.2:p.Lys178GlyfsTer3
ENST00000645119.1:c.324+2546_324+2577del (RPL5) ENSP00000493811.1:n.324+2546_324+2577del
ENST00000645300.1:c.381_412del (RPL5) ENSP00000495589.1:p.Lys128GlyfsTer3
ENST00000645908.1:n.265_296del (RPL5)
ENST00000370321.7:c.531_562del (RPL5) ENSP00000359345.2:p.Lys178GlyfsTer3
ENST00000497519.1:n.850_881del (RPL5)
ENST00000615519.4:c.475-4456_475-4425del (DIPK1A) ENSP00000483279.1:n.475-4456_475-4425del
NM_000969.3:c.531_562del (RPL5) NP_000960.2:p.Lys178GlyfsTer3
NM_001252273.1:c.475-4456_475-4425del (DIPK1A) NP_001239202.1:n.475-4456_475-4425del
NM_000969.5:c.531_562del (RPL5) MANE Select NP_000960.2:p.Lys178GlyfsTer3
NR_146333.1:n.590_621del (RPL5)
NM_001252273.2:c.475-4456_475-4425del (DIPK1A) NP_001239202.1:n.475-4456_475-4425del