Canonical Allele Identifier: CA524696671

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 2079538
• ClinVar RCV Id: RCV002982883
• dbSNP Id: rs1359312516
• gnomAD v2: 1-93299023-C-CA
• gnomAD v3: 1-92833466-C-CA
• gnomAD v4: 1-92833466-C-CA
• MyVariant Identifiers: chr1:g.93299023_93299024insA (hg19) ; chr1:g.92833466_92833467insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833467dup , CM000663.2:g.92833467dup	GRCh38
NC_000001.10:g.93299024dup , CM000663.1:g.93299024dup	GRCh37
NC_000001.9:g.93071612dup	NCBI36
NG_011779.1:g.6431dup
NG_033051.1:g.133056dup
NG_011779.2:g.6482dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.73+9dup (RPL5) MANE Select	ENSP00000359345.2:n.73+9dup
ENST00000645119.1:c.73+9dup (RPL5)	ENSP00000493811.1:n.73+9dup
ENST00000645300.1:c.-77-78dup (RPL5)	ENSP00000495589.1:n.-77-78dup
ENST00000646852.1:n.102+9dup (RPL5)
ENST00000315741.5:c.-78+9dup (RPL5)	ENSP00000359338.2:n.-78+9dup
ENST00000370321.7:c.73+9dup (RPL5)	ENSP00000359345.2:n.73+9dup
ENST00000461952.1:n.706dup (RPL5)
ENST00000470843.5:c.73+9dup (RPL5)	ENSP00000473675.1:n.73+9dup
ENST00000615519.4:c.475-433dup (DIPK1A)	ENSP00000483279.1:n.475-433dup
NM_000969.3:c.73+9dup (RPL5)	NP_000960.2:n.73+9dup
NM_001252273.1:c.475-433dup (DIPK1A)	NP_001239202.1:n.475-433dup
NM_000969.5:c.73+9dup (RPL5) MANE Select	NP_000960.2:n.73+9dup
NR_146333.1:n.202+9dup (RPL5)
NM_001252273.2:c.475-433dup (DIPK1A)	NP_001239202.1:n.475-433dup