Canonical Allele Identifier: CA2646596055

Gene: RPL5 DIPK1A

Linked Data

• gnomAD v4: 1-92836083-TTTTCTTTTCCAGATGTCAGTGGTCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92836086_92836110del , CM000663.2:g.92836086_92836110del	GRCh38
NC_000001.10:g.93301643_93301667del , CM000663.1:g.93301643_93301667del	GRCh37
NC_000001.9:g.93074231_93074255del	NCBI36
NG_011779.1:g.9050_9074del
NG_033051.1:g.130415_130439del
NG_011779.2:g.9101_9125del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.325-104_325-80del (RPL5) MANE Select	ENSP00000359345.2:n.325-104_325-80del
ENST00000645119.1:c.324+1173_324+1197del (RPL5)	ENSP00000493811.1:n.324+1173_324+1197del
ENST00000645300.1:c.175-104_175-80del (RPL5)	ENSP00000495589.1:n.175-104_175-80del
ENST00000645908.1:n.59-104_59-80del (RPL5)
ENST00000315741.5:c.175-104_175-80del (RPL5)	ENSP00000359338.2:n.175-104_175-80del
ENST00000370321.7:c.325-104_325-80del (RPL5)	ENSP00000359345.2:n.325-104_325-80del
ENST00000461952.1:n.1035-104_1035-80del (RPL5)
ENST00000470843.5:c.*287-104_*287-80del (RPL5)	ENSP00000473675.1:n.*287-104_*287-80del
ENST00000615519.4:c.475-3074_475-3050del (DIPK1A)	ENSP00000483279.1:n.475-3074_475-3050del
NM_000969.3:c.325-104_325-80del (RPL5)	NP_000960.2:n.325-104_325-80del
NM_001252273.1:c.475-3074_475-3050del (DIPK1A)	NP_001239202.1:n.475-3074_475-3050del
NM_000969.5:c.325-104_325-80del (RPL5) MANE Select	NP_000960.2:n.325-104_325-80del
NR_146333.1:n.421-141_421-117del (RPL5)
NM_001252273.2:c.475-3074_475-3050del (DIPK1A)	NP_001239202.1:n.475-3074_475-3050del