Canonical Allele Identifier: CA2646597589

Gene: RPL5 DIPK1A

Linked Data

• gnomAD v4: 1-92837884-CTGCTTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837885_92837890del , CM000663.2:g.92837885_92837890del	GRCh38
NC_000001.10:g.93303442_93303447del , CM000663.1:g.93303442_93303447del	GRCh37
NC_000001.9:g.93076030_93076035del	NCBI36
NG_011779.1:g.10849_10854del
NG_033051.1:g.128633_128638del
NG_011779.2:g.10900_10905del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+252_705+257del (RPL5) MANE Select	ENSP00000359345.2:n.705+252_705+257del
ENST00000645119.1:c.325-2666_325-2661del (RPL5)	ENSP00000493811.1:n.325-2666_325-2661del
ENST00000645300.1:c.555+252_555+257del (RPL5)	ENSP00000495589.1:n.555+252_555+257del
ENST00000370321.7:c.705+252_705+257del (RPL5)	ENSP00000359345.2:n.705+252_705+257del
ENST00000497519.1:n.1024+252_1024+257del (RPL5)
ENST00000615519.4:c.475-4856_475-4851del (DIPK1A)	ENSP00000483279.1:n.475-4856_475-4851del
NM_000969.3:c.705+252_705+257del (RPL5)	NP_000960.2:n.705+252_705+257del
NM_001252273.1:c.475-4856_475-4851del (DIPK1A)	NP_001239202.1:n.475-4856_475-4851del
NM_000969.5:c.705+252_705+257del (RPL5) MANE Select	NP_000960.2:n.705+252_705+257del
NR_146333.1:n.764+252_764+257del (RPL5)
NM_001252273.2:c.475-4856_475-4851del (DIPK1A)	NP_001239202.1:n.475-4856_475-4851del