Canonical Allele Identifier: CA2646597435

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs2100688222
• gnomAD v4: 1-92837445-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837447_92837448del , CM000663.2:g.92837447_92837448del	GRCh38
NC_000001.10:g.93303004_93303005del , CM000663.1:g.93303004_93303005del	GRCh37
NC_000001.9:g.93075592_93075593del	NCBI36
NG_011779.1:g.10411_10412del
NG_033051.1:g.129076_129077del
NG_011779.2:g.10462_10463del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-9_528-8del (RPL5) MANE Select	ENSP00000359345.2:n.528-9_528-8del
ENST00000645119.1:c.324+2534_324+2535del (RPL5)	ENSP00000493811.1:n.324+2534_324+2535del
ENST00000645300.1:c.378-9_378-8del (RPL5)	ENSP00000495589.1:n.378-9_378-8del
ENST00000645908.1:n.262-9_262-8del (RPL5)
ENST00000315741.5:c.378-9_378-8del (RPL5)	ENSP00000359338.2:n.378-9_378-8del
ENST00000370321.7:c.528-9_528-8del (RPL5)	ENSP00000359345.2:n.528-9_528-8del
ENST00000497519.1:n.838_839del (RPL5)
ENST00000615519.4:c.475-4413_475-4412del (DIPK1A)	ENSP00000483279.1:n.475-4413_475-4412del
NM_000969.3:c.528-9_528-8del (RPL5)	NP_000960.2:n.528-9_528-8del
NM_001252273.1:c.475-4413_475-4412del (DIPK1A)	NP_001239202.1:n.475-4413_475-4412del
NM_000969.5:c.528-9_528-8del (RPL5) MANE Select	NP_000960.2:n.528-9_528-8del
NR_146333.1:n.587-9_587-8del (RPL5)
NM_001252273.2:c.475-4413_475-4412del (DIPK1A)	NP_001239202.1:n.475-4413_475-4412del