Canonical Allele Identifier: CA740407887

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1204010932
• gnomAD v4: 1-92837039-TG-T
• MyVariant Identifiers: chr1:g.93302597del (hg19) ; chr1:g.92837040del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837045del , CM000663.2:g.92837045del	GRCh38
NC_000001.10:g.93302602del , CM000663.1:g.93302602del	GRCh37
NC_000001.9:g.93075190del	NCBI36
NG_011779.1:g.10009del
NG_033051.1:g.129483del
NG_011779.2:g.10060del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-411del (RPL5) MANE Select	ENSP00000359345.2:n.528-411del
ENST00000645119.1:c.324+2132del (RPL5)	ENSP00000493811.1:n.324+2132del
ENST00000645300.1:c.378-411del (RPL5)	ENSP00000495589.1:n.378-411del
ENST00000645908.1:n.262-411del (RPL5)
ENST00000315741.5:c.378-411del (RPL5)	ENSP00000359338.2:n.378-411del
ENST00000370321.7:c.528-411del (RPL5)	ENSP00000359345.2:n.528-411del
ENST00000497519.1:n.436del (RPL5)
ENST00000615519.4:c.475-4006del (DIPK1A)	ENSP00000483279.1:n.475-4006del
NM_000969.3:c.528-411del (RPL5)	NP_000960.2:n.528-411del
NM_001252273.1:c.475-4006del (DIPK1A)	NP_001239202.1:n.475-4006del
NM_000969.5:c.528-411del (RPL5) MANE Select	NP_000960.2:n.528-411del
NR_146333.1:n.587-411del (RPL5)
NM_001252273.2:c.475-4006del (DIPK1A)	NP_001239202.1:n.475-4006del