Canonical Allele Identifier: CA916235793

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1557441722
• gnomAD v3: 1-92837395-ATTC-A
• gnomAD v4: 1-92837395-ATTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837398_92837400del , CM000663.2:g.92837398_92837400del	GRCh38
NC_000001.10:g.93302955_93302957del , CM000663.1:g.93302955_93302957del	GRCh37
NC_000001.9:g.93075543_93075545del	NCBI36
NG_011779.1:g.10362_10364del
NG_033051.1:g.129125_129127del
NG_011779.2:g.10413_10415del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-58_528-56del (RPL5) MANE Select	ENSP00000359345.2:n.528-58_528-56del
ENST00000645119.1:c.324+2485_324+2487del (RPL5)	ENSP00000493811.1:n.324+2485_324+2487del
ENST00000645300.1:c.378-58_378-56del (RPL5)	ENSP00000495589.1:n.378-58_378-56del
ENST00000645908.1:n.262-58_262-56del (RPL5)
ENST00000315741.5:c.378-58_378-56del (RPL5)	ENSP00000359338.2:n.378-58_378-56del
ENST00000370321.7:c.528-58_528-56del (RPL5)	ENSP00000359345.2:n.528-58_528-56del
ENST00000497519.1:n.789_791del (RPL5)
ENST00000615519.4:c.475-4364_475-4362del (DIPK1A)	ENSP00000483279.1:n.475-4364_475-4362del
NM_000969.3:c.528-58_528-56del (RPL5)	NP_000960.2:n.528-58_528-56del
NM_001252273.1:c.475-4364_475-4362del (DIPK1A)	NP_001239202.1:n.475-4364_475-4362del
NM_000969.5:c.528-58_528-56del (RPL5) MANE Select	NP_000960.2:n.528-58_528-56del
NR_146333.1:n.587-58_587-56del (RPL5)
NM_001252273.2:c.475-4364_475-4362del (DIPK1A)	NP_001239202.1:n.475-4364_475-4362del