Canonical Allele Identifier: CA524366190

Gene: RPL5 DIPK1A SNORD21

Linked Data

• dbSNP Id: rs1239672025
• gnomAD v2: 1-93302880-G-GT
• gnomAD v4: 1-92837323-G-GT
• MyVariant Identifiers: chr1:g.93302880_93302881insT (hg19) ; chr1:g.92837323_92837324insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837324dup , CM000663.2:g.92837324dup	GRCh38
NC_000001.10:g.93302881dup , CM000663.1:g.93302881dup	GRCh37
NC_000001.9:g.93075469dup	NCBI36
NG_011779.1:g.10288dup
NG_033051.1:g.129199dup
NG_011779.2:g.10339dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-132dup (RPL5) MANE Select	ENSP00000359345.2:n.528-132dup
ENST00000645119.1:c.324+2411dup (RPL5)	ENSP00000493811.1:n.324+2411dup
ENST00000645300.1:c.378-132dup (RPL5)	ENSP00000495589.1:n.378-132dup
ENST00000645908.1:n.262-132dup (RPL5)
ENST00000315741.5:c.378-132dup (RPL5)	ENSP00000359338.2:n.378-132dup
ENST00000370321.7:c.528-132dup (RPL5)	ENSP00000359345.2:n.528-132dup
ENST00000497519.1:n.715dup (RPL5)
ENST00000615519.4:c.475-4290dup (DIPK1A)	ENSP00000483279.1:n.475-4290dup
NM_000969.3:c.528-132dup (RPL5)	NP_000960.2:n.528-132dup
NM_001252273.1:c.475-4290dup (DIPK1A)	NP_001239202.1:n.475-4290dup
NR_000006.8:n.36dup (SNORD21)
NM_000969.5:c.528-132dup (RPL5) MANE Select	NP_000960.2:n.528-132dup
NR_146333.1:n.587-132dup (RPL5)
NM_001252273.2:c.475-4290dup (DIPK1A)	NP_001239202.1:n.475-4290dup