Canonical Allele Identifier: CA740408644

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1364980790
• gnomAD v3: 1-92837711-CATTCTT-C
• gnomAD v4: 1-92837711-CATTCTT-C
• MyVariant Identifiers: chr1:g.93303269_93303274del (hg19) ; chr1:g.92837712_92837717del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837714_92837719del , CM000663.2:g.92837714_92837719del	GRCh38
NC_000001.10:g.93303271_93303276del , CM000663.1:g.93303271_93303276del	GRCh37
NC_000001.9:g.93075859_93075864del	NCBI36
NG_011779.1:g.10678_10683del
NG_033051.1:g.128806_128811del
NG_011779.2:g.10729_10734del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+81_705+86del (RPL5) MANE Select	ENSP00000359345.2:n.705+81_705+86del
ENST00000645119.1:c.324+2801_324+2806del (RPL5)	ENSP00000493811.1:n.324+2801_324+2806del
ENST00000645300.1:c.555+81_555+86del (RPL5)	ENSP00000495589.1:n.555+81_555+86del
ENST00000645908.1:n.520_525del (RPL5)
ENST00000370321.7:c.705+81_705+86del (RPL5)	ENSP00000359345.2:n.705+81_705+86del
ENST00000497519.1:n.1024+81_1024+86del (RPL5)
ENST00000615519.4:c.475-4683_475-4678del (DIPK1A)	ENSP00000483279.1:n.475-4683_475-4678del
NM_000969.3:c.705+81_705+86del (RPL5)	NP_000960.2:n.705+81_705+86del
NM_001252273.1:c.475-4683_475-4678del (DIPK1A)	NP_001239202.1:n.475-4683_475-4678del
NM_000969.5:c.705+81_705+86del (RPL5) MANE Select	NP_000960.2:n.705+81_705+86del
NR_146333.1:n.764+81_764+86del (RPL5)
NM_001252273.2:c.475-4683_475-4678del (DIPK1A)	NP_001239202.1:n.475-4683_475-4678del