Canonical Allele Identifier: CA524366189

Gene: RPL5 DIPK1A SNORD21

Linked Data

• dbSNP Id: rs1443459485
• gnomAD v2: 1-93302867-AACTG-A
• gnomAD v4: 1-92837310-AACTG-A
• MyVariant Identifiers: chr1:g.93302868_93302871del (hg19) ; chr1:g.92837311_92837314del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837312_92837315del , CM000663.2:g.92837312_92837315del	GRCh38
NC_000001.10:g.93302869_93302872del , CM000663.1:g.93302869_93302872del	GRCh37
NC_000001.9:g.93075457_93075460del	NCBI36
NG_011779.1:g.10276_10279del
NG_033051.1:g.129209_129212del
NG_011779.2:g.10327_10330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-144_528-141del (RPL5) MANE Select	ENSP00000359345.2:n.528-144_528-141del
ENST00000645119.1:c.324+2399_324+2402del (RPL5)	ENSP00000493811.1:n.324+2399_324+2402del
ENST00000645300.1:c.378-144_378-141del (RPL5)	ENSP00000495589.1:n.378-144_378-141del
ENST00000645908.1:n.262-144_262-141del (RPL5)
ENST00000315741.5:c.378-144_378-141del (RPL5)	ENSP00000359338.2:n.378-144_378-141del
ENST00000370321.7:c.528-144_528-141del (RPL5)	ENSP00000359345.2:n.528-144_528-141del
ENST00000497519.1:n.703_706del (RPL5)
ENST00000615519.4:c.475-4280_475-4277del (DIPK1A)	ENSP00000483279.1:n.475-4280_475-4277del
NM_000969.3:c.528-144_528-141del (RPL5)	NP_000960.2:n.528-144_528-141del
NM_001252273.1:c.475-4280_475-4277del (DIPK1A)	NP_001239202.1:n.475-4280_475-4277del
NR_000006.8:n.24_27del (SNORD21)
NM_000969.5:c.528-144_528-141del (RPL5) MANE Select	NP_000960.2:n.528-144_528-141del
NR_146333.1:n.587-144_587-141del (RPL5)
NM_001252273.2:c.475-4280_475-4277del (DIPK1A)	NP_001239202.1:n.475-4280_475-4277del