Canonical Allele Identifier: CA2586966843

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837493del , CM000663.2:g.92837493del GRCh38
NC_000001.10:g.93303050del , CM000663.1:g.93303050del GRCh37
NC_000001.9:g.93075638del NCBI36
NG_011779.1:g.10457del
NG_033051.1:g.129031del
NG_011779.2:g.10508del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.565del (RPL5) MANE Select ENSP00000359345.2:p.Glu189AsnfsTer23
ENST00000645119.1:c.324+2580del (RPL5) ENSP00000493811.1:n.324+2580del
ENST00000645300.1:c.415del (RPL5) ENSP00000495589.1:p.Glu139AsnfsTer23
ENST00000645908.1:n.299del (RPL5)
ENST00000370321.7:c.565del (RPL5) ENSP00000359345.2:p.Glu189AsnfsTer23
ENST00000497519.1:n.884del (RPL5)
ENST00000615519.4:c.475-4458del (DIPK1A) ENSP00000483279.1:n.475-4458del
NM_000969.3:c.565del (RPL5) NP_000960.2:p.Glu189AsnfsTer23
NM_001252273.1:c.475-4458del (DIPK1A) NP_001239202.1:n.475-4458del
NM_000969.5:c.565del (RPL5) MANE Select NP_000960.2:p.Glu189AsnfsTer23
NR_146333.1:n.624del (RPL5)
NM_001252273.2:c.475-4458del (DIPK1A) NP_001239202.1:n.475-4458del