Canonical Allele Identifier: CA2646597571

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837877_92837878del , CM000663.2:g.92837877_92837878del GRCh38
NC_000001.10:g.93303434_93303435del , CM000663.1:g.93303434_93303435del GRCh37
NC_000001.9:g.93076022_93076023del NCBI36
NG_011779.1:g.10841_10842del
NG_033051.1:g.128645_128646del
NG_011779.2:g.10892_10893del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+244_705+245del (RPL5) MANE Select ENSP00000359345.2:n.705+244_705+245del
ENST00000645119.1:c.325-2674_325-2673del (RPL5) ENSP00000493811.1:n.325-2674_325-2673del
ENST00000645300.1:c.555+244_555+245del (RPL5) ENSP00000495589.1:n.555+244_555+245del
ENST00000370321.7:c.705+244_705+245del (RPL5) ENSP00000359345.2:n.705+244_705+245del
ENST00000497519.1:n.1024+244_1024+245del (RPL5)
ENST00000615519.4:c.475-4844_475-4843del (DIPK1A) ENSP00000483279.1:n.475-4844_475-4843del
NM_000969.3:c.705+244_705+245del (RPL5) NP_000960.2:n.705+244_705+245del
NM_001252273.1:c.475-4844_475-4843del (DIPK1A) NP_001239202.1:n.475-4844_475-4843del
NM_000969.5:c.705+244_705+245del (RPL5) MANE Select NP_000960.2:n.705+244_705+245del
NR_146333.1:n.764+244_764+245del (RPL5)
NM_001252273.2:c.475-4844_475-4843del (DIPK1A) NP_001239202.1:n.475-4844_475-4843del