Canonical Allele Identifier: CA1004467222

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1687189615
• gnomAD v3: 1-92837890-TGTTG-T
• gnomAD v4: 1-92837890-TGTTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837892_92837895del , CM000663.2:g.92837892_92837895del	GRCh38
NC_000001.10:g.93303449_93303452del , CM000663.1:g.93303449_93303452del	GRCh37
NC_000001.9:g.93076037_93076040del	NCBI36
NG_011779.1:g.10856_10859del
NG_033051.1:g.128629_128632del
NG_011779.2:g.10907_10910del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+259_705+262del (RPL5) MANE Select	ENSP00000359345.2:n.705+259_705+262del
ENST00000645119.1:c.325-2659_325-2656del (RPL5)	ENSP00000493811.1:n.325-2659_325-2656del
ENST00000645300.1:c.555+259_555+262del (RPL5)	ENSP00000495589.1:n.555+259_555+262del
ENST00000370321.7:c.705+259_705+262del (RPL5)	ENSP00000359345.2:n.705+259_705+262del
ENST00000497519.1:n.1024+259_1024+262del (RPL5)
ENST00000615519.4:c.475-4860_475-4857del (DIPK1A)	ENSP00000483279.1:n.475-4860_475-4857del
NM_000969.3:c.705+259_705+262del (RPL5)	NP_000960.2:n.705+259_705+262del
NM_001252273.1:c.475-4860_475-4857del (DIPK1A)	NP_001239202.1:n.475-4860_475-4857del
NM_000969.5:c.705+259_705+262del (RPL5) MANE Select	NP_000960.2:n.705+259_705+262del
NR_146333.1:n.764+259_764+262del (RPL5)
NM_001252273.2:c.475-4860_475-4857del (DIPK1A)	NP_001239202.1:n.475-4860_475-4857del