Canonical Allele Identifier: CA2646597410

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837290_92837292del , CM000663.2:g.92837290_92837292del GRCh38
NC_000001.10:g.93302847_93302849del , CM000663.1:g.93302847_93302849del GRCh37
NC_000001.9:g.93075435_93075437del NCBI36
NG_011779.1:g.10254_10256del
NG_033051.1:g.129235_129237del
NG_011779.2:g.10305_10307del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.528-166_528-164del (RPL5) MANE Select ENSP00000359345.2:n.528-166_528-164del
ENST00000645119.1:c.324+2377_324+2379del (RPL5) ENSP00000493811.1:n.324+2377_324+2379del
ENST00000645300.1:c.378-166_378-164del (RPL5) ENSP00000495589.1:n.378-166_378-164del
ENST00000645908.1:n.262-166_262-164del (RPL5)
ENST00000315741.5:c.378-166_378-164del (RPL5) ENSP00000359338.2:n.378-166_378-164del
ENST00000370321.7:c.528-166_528-164del (RPL5) ENSP00000359345.2:n.528-166_528-164del
ENST00000497519.1:n.681_683del (RPL5)
ENST00000615519.4:c.475-4254_475-4252del (DIPK1A) ENSP00000483279.1:n.475-4254_475-4252del
NM_000969.3:c.528-166_528-164del (RPL5) NP_000960.2:n.528-166_528-164del
NM_001252273.1:c.475-4254_475-4252del (DIPK1A) NP_001239202.1:n.475-4254_475-4252del
NM_000969.5:c.528-166_528-164del (RPL5) MANE Select NP_000960.2:n.528-166_528-164del
NR_146333.1:n.587-166_587-164del (RPL5)
NM_001252273.2:c.475-4254_475-4252del (DIPK1A) NP_001239202.1:n.475-4254_475-4252del