Canonical Allele Identifier: CA16617198
Gene: RPL5 HGNC NCBI
DIPK1A HGNC NCBI

Linked Data

ClinVar Variation Id: 419160
ClinVar RCV Id: RCV000483793
dbSNP Id: rs1064793686
MyVariant Identifiers: chr1:g.93301757_93301760del (hg19) chr1:g.92836200_92836203del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836200_92836203del , CM000663.2:g.92836200_92836203del GRCh38
NC_000001.10:g.93301757_93301760del , CM000663.1:g.93301757_93301760del GRCh37
NC_000001.9:g.93074345_93074348del NCBI36
NG_011779.1:g.9164_9167del
NG_033051.1:g.130320_130323del
NG_011779.2:g.9215_9218del

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.335_338del (RPL5) MANE Select ENSP00000359345.2:p.Arg112MetfsTer13
ENST00000645119.1:c.324+1287_324+1290del (RPL5) ENSP00000493811.1:n.324+1287_324+1290del
ENST00000645300.1:c.185_188del (RPL5) ENSP00000495589.1:p.Arg62MetfsTer13
ENST00000645908.1:n.69_72del (RPL5)
ENST00000315741.5:c.185_188del (RPL5) ENSP00000359338.2:p.Arg62MetfsTer13
ENST00000370321.7:c.335_338del (RPL5) ENSP00000359345.2:p.Arg112MetfsTer13
ENST00000461952.1:n.1045_1048del (RPL5)
ENST00000470843.5:c.*297_*300del (RPL5) ENSP00000473675.1:n.*297_*300del
ENST00000615519.4:c.475-3169_475-3166del (DIPK1A) ENSP00000483279.1:n.475-3169_475-3166del
NM_000969.3:c.335_338del (RPL5) NP_000960.2:p.Arg112MetfsTer13
NM_001252273.1:c.475-3169_475-3166del (DIPK1A) NP_001239202.1:n.475-3169_475-3166del
NM_000969.5:c.335_338del (RPL5) MANE Select NP_000960.2:p.Arg112MetfsTer13
NR_146333.1:n.421-27_421-24del (RPL5)
NM_001252273.2:c.475-3169_475-3166del (DIPK1A) NP_001239202.1:n.475-3169_475-3166del
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