Canonical Allele Identifier: CA2580063323

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836406_92836409dup , CM000663.2:g.92836406_92836409dup GRCh38
NC_000001.10:g.93301963_93301966dup , CM000663.1:g.93301963_93301966dup GRCh37
NC_000001.9:g.93074551_93074554dup NCBI36
NG_011779.1:g.9370_9373dup
NG_033051.1:g.130114_130117dup
NG_011779.2:g.9421_9424dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.527+14_527+17dup (RPL5) MANE Select ENSP00000359345.2:n.527+14_527+17dup
ENST00000645119.1:c.324+1493_324+1496dup (RPL5) ENSP00000493811.1:n.324+1493_324+1496dup
ENST00000645300.1:c.377+14_377+17dup (RPL5) ENSP00000495589.1:n.377+14_377+17dup
ENST00000645908.1:n.261+14_261+17dup (RPL5)
ENST00000315741.5:c.377+14_377+17dup (RPL5) ENSP00000359338.2:n.377+14_377+17dup
ENST00000370321.7:c.527+14_527+17dup (RPL5) ENSP00000359345.2:n.527+14_527+17dup
ENST00000615519.4:c.475-3375_475-3372dup (DIPK1A) ENSP00000483279.1:n.475-3375_475-3372dup
NM_000969.3:c.527+14_527+17dup (RPL5) NP_000960.2:n.527+14_527+17dup
NM_001252273.1:c.475-3375_475-3372dup (DIPK1A) NP_001239202.1:n.475-3375_475-3372dup
NM_000969.5:c.527+14_527+17dup (RPL5) MANE Select NP_000960.2:n.527+14_527+17dup
NR_146333.1:n.586+14_586+17dup (RPL5)
NM_001252273.2:c.475-3375_475-3372dup (DIPK1A) NP_001239202.1:n.475-3375_475-3372dup