Canonical Allele Identifier: CA1180934247

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1687183905
• gnomAD v3: 1-92837716-TTA-T
• gnomAD v4: 1-92837716-TTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837721_92837722del , CM000663.2:g.92837721_92837722del	GRCh38
NC_000001.10:g.93303278_93303279del , CM000663.1:g.93303278_93303279del	GRCh37
NC_000001.9:g.93075866_93075867del	NCBI36
NG_011779.1:g.10685_10686del
NG_033051.1:g.128805_128806del
NG_011779.2:g.10736_10737del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+88_705+89del (RPL5) MANE Select	ENSP00000359345.2:n.705+88_705+89del
ENST00000645119.1:c.324+2808_324+2809del (RPL5)	ENSP00000493811.1:n.324+2808_324+2809del
ENST00000645300.1:c.555+88_555+89del (RPL5)	ENSP00000495589.1:n.555+88_555+89del
ENST00000645908.1:n.527_528del (RPL5)
ENST00000370321.7:c.705+88_705+89del (RPL5)	ENSP00000359345.2:n.705+88_705+89del
ENST00000497519.1:n.1024+88_1024+89del (RPL5)
ENST00000615519.4:c.475-4684_475-4683del (DIPK1A)	ENSP00000483279.1:n.475-4684_475-4683del
NM_000969.3:c.705+88_705+89del (RPL5)	NP_000960.2:n.705+88_705+89del
NM_001252273.1:c.475-4684_475-4683del (DIPK1A)	NP_001239202.1:n.475-4684_475-4683del
NM_000969.5:c.705+88_705+89del (RPL5) MANE Select	NP_000960.2:n.705+88_705+89del
NR_146333.1:n.764+88_764+89del (RPL5)
NM_001252273.2:c.475-4684_475-4683del (DIPK1A)	NP_001239202.1:n.475-4684_475-4683del