Canonical Allele Identifier: CA2646597558

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837872_92837874del , CM000663.2:g.92837872_92837874del GRCh38
NC_000001.10:g.93303429_93303431del , CM000663.1:g.93303429_93303431del GRCh37
NC_000001.9:g.93076017_93076019del NCBI36
NG_011779.1:g.10836_10838del
NG_033051.1:g.128651_128653del
NG_011779.2:g.10887_10889del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+239_705+241del (RPL5) MANE Select ENSP00000359345.2:n.705+239_705+241del
ENST00000645119.1:c.325-2679_325-2677del (RPL5) ENSP00000493811.1:n.325-2679_325-2677del
ENST00000645300.1:c.555+239_555+241del (RPL5) ENSP00000495589.1:n.555+239_555+241del
ENST00000370321.7:c.705+239_705+241del (RPL5) ENSP00000359345.2:n.705+239_705+241del
ENST00000497519.1:n.1024+239_1024+241del (RPL5)
ENST00000615519.4:c.475-4838_475-4836del (DIPK1A) ENSP00000483279.1:n.475-4838_475-4836del
NM_000969.3:c.705+239_705+241del (RPL5) NP_000960.2:n.705+239_705+241del
NM_001252273.1:c.475-4838_475-4836del (DIPK1A) NP_001239202.1:n.475-4838_475-4836del
NM_000969.5:c.705+239_705+241del (RPL5) MANE Select NP_000960.2:n.705+239_705+241del
NR_146333.1:n.764+239_764+241del (RPL5)
NM_001252273.2:c.475-4838_475-4836del (DIPK1A) NP_001239202.1:n.475-4838_475-4836del