Canonical Allele Identifier: CA1180933597

Linked Data

dbSNP Id: rs1687114759

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836123_92836124del , CM000663.2:g.92836123_92836124del GRCh38
NC_000001.10:g.93301680_93301681del , CM000663.1:g.93301680_93301681del GRCh37
NC_000001.9:g.93074268_93074269del NCBI36
NG_011779.1:g.9087_9088del
NG_033051.1:g.130400_130401del
NG_011779.2:g.9138_9139del

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.325-67_325-66del (RPL5) MANE Select ENSP00000359345.2:n.325-67_325-66del
ENST00000645119.1:c.324+1210_324+1211del (RPL5) ENSP00000493811.1:n.324+1210_324+1211del
ENST00000645300.1:c.175-67_175-66del (RPL5) ENSP00000495589.1:n.175-67_175-66del
ENST00000645908.1:n.59-67_59-66del (RPL5)
ENST00000315741.5:c.175-67_175-66del (RPL5) ENSP00000359338.2:n.175-67_175-66del
ENST00000370321.7:c.325-67_325-66del (RPL5) ENSP00000359345.2:n.325-67_325-66del
ENST00000461952.1:n.1035-67_1035-66del (RPL5)
ENST00000470843.5:c.*287-67_*287-66del (RPL5) ENSP00000473675.1:n.*287-67_*287-66del
ENST00000615519.4:c.475-3089_475-3088del (DIPK1A) ENSP00000483279.1:n.475-3089_475-3088del
NM_000969.3:c.325-67_325-66del (RPL5) NP_000960.2:n.325-67_325-66del
NM_001252273.1:c.475-3089_475-3088del (DIPK1A) NP_001239202.1:n.475-3089_475-3088del
NM_000969.5:c.325-67_325-66del (RPL5) MANE Select NP_000960.2:n.325-67_325-66del
NR_146333.1:n.421-104_421-103del (RPL5)
NM_001252273.2:c.475-3089_475-3088del (DIPK1A) NP_001239202.1:n.475-3089_475-3088del