Canonical Allele Identifier: CA1139656211

Gene: RPL5 DIPK1A

Linked Data

• ClinVar Variation Id: 965003
• ClinVar RCV Id: RCV001239349
• dbSNP Id: rs1687178005

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837562dup , CM000663.2:g.92837562dup	GRCh38
NC_000001.10:g.93303119dup , CM000663.1:g.93303119dup	GRCh37
NC_000001.9:g.93075707dup	NCBI36
NG_011779.1:g.10526dup
NG_033051.1:g.128962dup
NG_011779.2:g.10577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.634dup (RPL5) MANE Select	ENSP00000359345.2:p.Met212AsnfsTer5
ENST00000645119.1:c.324+2649dup (RPL5)	ENSP00000493811.1:n.324+2649dup
ENST00000645300.1:c.484dup (RPL5)	ENSP00000495589.1:p.Met162AsnfsTer5
ENST00000645908.1:n.368dup (RPL5)
ENST00000370321.7:c.634dup (RPL5)	ENSP00000359345.2:p.Met212AsnfsTer5
ENST00000497519.1:n.953dup (RPL5)
ENST00000615519.4:c.475-4527dup (DIPK1A)	ENSP00000483279.1:n.475-4527dup
NM_000969.3:c.634dup (RPL5)	NP_000960.2:p.Met212AsnfsTer5
NM_001252273.1:c.475-4527dup (DIPK1A)	NP_001239202.1:n.475-4527dup
NM_000969.5:c.634dup (RPL5) MANE Select	NP_000960.2:p.Met212AsnfsTer5
NR_146333.1:n.693dup (RPL5)
NM_001252273.2:c.475-4527dup (DIPK1A)	NP_001239202.1:n.475-4527dup