Canonical Allele Identifier: CA740408070

Gene: RPL5 DIPK1A SNORD21

Linked Data

• dbSNP Id: rs1158626405
• gnomAD v3: 1-92837293-AATG-A
• gnomAD v4: 1-92837293-AATG-A
• MyVariant Identifiers: chr1:g.93302851_93302853del (hg19) ; chr1:g.92837294_92837296del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837299_92837301del , CM000663.2:g.92837299_92837301del	GRCh38
NC_000001.10:g.93302856_93302858del , CM000663.1:g.93302856_93302858del	GRCh37
NC_000001.9:g.93075444_93075446del	NCBI36
NG_011779.1:g.10263_10265del
NG_033051.1:g.129227_129229del
NG_011779.2:g.10314_10316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-157_528-155del (RPL5) MANE Select	ENSP00000359345.2:n.528-157_528-155del
ENST00000645119.1:c.324+2386_324+2388del (RPL5)	ENSP00000493811.1:n.324+2386_324+2388del
ENST00000645300.1:c.378-157_378-155del (RPL5)	ENSP00000495589.1:n.378-157_378-155del
ENST00000645908.1:n.262-157_262-155del (RPL5)
ENST00000315741.5:c.378-157_378-155del (RPL5)	ENSP00000359338.2:n.378-157_378-155del
ENST00000370321.7:c.528-157_528-155del (RPL5)	ENSP00000359345.2:n.528-157_528-155del
ENST00000497519.1:n.690_692del (RPL5)
ENST00000615519.4:c.475-4262_475-4260del (DIPK1A)	ENSP00000483279.1:n.475-4262_475-4260del
NM_000969.3:c.528-157_528-155del (RPL5)	NP_000960.2:n.528-157_528-155del
NM_001252273.1:c.475-4262_475-4260del (DIPK1A)	NP_001239202.1:n.475-4262_475-4260del
NR_000006.8:n.11_13del (SNORD21)
NM_000969.5:c.528-157_528-155del (RPL5) MANE Select	NP_000960.2:n.528-157_528-155del
NR_146333.1:n.587-157_587-155del (RPL5)
NM_001252273.2:c.475-4262_475-4260del (DIPK1A)	NP_001239202.1:n.475-4262_475-4260del