Canonical Allele Identifier: CA2696500163

Linked Data

dbSNP Id: rs2100687577

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837282_92837286del , CM000663.2:g.92837282_92837286del GRCh38
NC_000001.10:g.93302839_93302843del , CM000663.1:g.93302839_93302843del GRCh37
NC_000001.9:g.93075427_93075431del NCBI36
NG_011779.1:g.10246_10250del
NG_033051.1:g.129240_129244del
NG_011779.2:g.10297_10301del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.528-174_528-170del (RPL5) MANE Select ENSP00000359345.2:n.528-174_528-170del
ENST00000645119.1:c.324+2369_324+2373del (RPL5) ENSP00000493811.1:n.324+2369_324+2373del
ENST00000645300.1:c.378-174_378-170del (RPL5) ENSP00000495589.1:n.378-174_378-170del
ENST00000645908.1:n.262-174_262-170del (RPL5)
ENST00000315741.5:c.378-174_378-170del (RPL5) ENSP00000359338.2:n.378-174_378-170del
ENST00000370321.7:c.528-174_528-170del (RPL5) ENSP00000359345.2:n.528-174_528-170del
ENST00000497519.1:n.673_677del (RPL5)
ENST00000615519.4:c.475-4249_475-4245del (DIPK1A) ENSP00000483279.1:n.475-4249_475-4245del
NM_000969.3:c.528-174_528-170del (RPL5) NP_000960.2:n.528-174_528-170del
NM_001252273.1:c.475-4249_475-4245del (DIPK1A) NP_001239202.1:n.475-4249_475-4245del
NM_000969.5:c.528-174_528-170del (RPL5) MANE Select NP_000960.2:n.528-174_528-170del
NR_146333.1:n.587-174_587-170del (RPL5)
NM_001252273.2:c.475-4249_475-4245del (DIPK1A) NP_001239202.1:n.475-4249_475-4245del