Canonical Allele Identifier: CA2744584724

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837926_92837928del , CM000663.2:g.92837926_92837928del GRCh38
NC_000001.10:g.93303483_93303485del , CM000663.1:g.93303483_93303485del GRCh37
NC_000001.9:g.93076071_93076073del NCBI36
NG_011779.1:g.10890_10892del
NG_033051.1:g.128597_128599del
NG_011779.2:g.10941_10943del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+293_705+295del (RPL5) MANE Select ENSP00000359345.2:n.705+293_705+295del
ENST00000645119.1:c.325-2625_325-2623del (RPL5) ENSP00000493811.1:n.325-2625_325-2623del
ENST00000645300.1:c.555+293_555+295del (RPL5) ENSP00000495589.1:n.555+293_555+295del
ENST00000370321.7:c.705+293_705+295del (RPL5) ENSP00000359345.2:n.705+293_705+295del
ENST00000497519.1:n.1024+293_1024+295del (RPL5)
ENST00000615519.4:c.475-4892_475-4890del (DIPK1A) ENSP00000483279.1:n.475-4892_475-4890del
NM_000969.3:c.705+293_705+295del (RPL5) NP_000960.2:n.705+293_705+295del
NM_001252273.1:c.475-4892_475-4890del (DIPK1A) NP_001239202.1:n.475-4892_475-4890del
NM_000969.5:c.705+293_705+295del (RPL5) MANE Select NP_000960.2:n.705+293_705+295del
NR_146333.1:n.764+293_764+295del (RPL5)
NM_001252273.2:c.475-4892_475-4890del (DIPK1A) NP_001239202.1:n.475-4892_475-4890del