Canonical Allele Identifier: CA740408727

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1218073321
• MyVariant Identifiers: chr1:g.93303442_93303446del (hg19) ; chr1:g.92837885_92837889del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837887_92837891del , CM000663.2:g.92837887_92837891del	GRCh38
NC_000001.10:g.93303444_93303448del , CM000663.1:g.93303444_93303448del	GRCh37
NC_000001.9:g.93076032_93076036del	NCBI36
NG_011779.1:g.10851_10855del
NG_033051.1:g.128634_128638del
NG_011779.2:g.10902_10906del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+254_705+258del (RPL5) MANE Select	ENSP00000359345.2:n.705+254_705+258del
ENST00000645119.1:c.325-2664_325-2660del (RPL5)	ENSP00000493811.1:n.325-2664_325-2660del
ENST00000645300.1:c.555+254_555+258del (RPL5)	ENSP00000495589.1:n.555+254_555+258del
ENST00000370321.7:c.705+254_705+258del (RPL5)	ENSP00000359345.2:n.705+254_705+258del
ENST00000497519.1:n.1024+254_1024+258del (RPL5)
ENST00000615519.4:c.475-4855_475-4851del (DIPK1A)	ENSP00000483279.1:n.475-4855_475-4851del
NM_000969.3:c.705+254_705+258del (RPL5)	NP_000960.2:n.705+254_705+258del
NM_001252273.1:c.475-4855_475-4851del (DIPK1A)	NP_001239202.1:n.475-4855_475-4851del
NM_000969.5:c.705+254_705+258del (RPL5) MANE Select	NP_000960.2:n.705+254_705+258del
NR_146333.1:n.764+254_764+258del (RPL5)
NM_001252273.2:c.475-4855_475-4851del (DIPK1A)	NP_001239202.1:n.475-4855_475-4851del