Canonical Allele Identifier: CA2580611175

Gene: RPL5 DIPK1A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92833649_92833650del , CM000663.2:g.92833649_92833650del	GRCh38
NC_000001.10:g.93299206_93299207del , CM000663.1:g.93299206_93299207del	GRCh37
NC_000001.9:g.93071794_93071795del	NCBI36
NG_011779.1:g.6613_6614del
NG_033051.1:g.132875_132876del
NG_011779.2:g.6664_6665del

Transcript Alleles

HGVS	Amino-acid Change
NM_000969.5:c.178_179del (RPL5) MANE Select	NP_000960.2:p.Ile60HisfsTer?
ENST00000370321.8:c.178_179del (RPL5) MANE Select	ENSP00000359345.2:p.Ile60HisfsTer?
NM_000969.3:c.178_179del (RPL5)	NP_000960.2:p.Ile60HisfsTer?
NM_001252273.1:c.475-614_475-613del (DIPK1A)	NP_001239202.1:n.475-614_475-613del
NM_001252273.2:c.475-614_475-613del (DIPK1A)	NP_001239202.1:n.475-614_475-613del
NR_146333.1:n.307_308del (RPL5)
ENST00000315741.5:c.28_29del (RPL5)	ENSP00000359338.2:p.Ile10HisfsTer?
ENST00000370321.7:c.178_179del (RPL5)	ENSP00000359345.2:p.Ile60HisfsTer?
ENST00000461952.1:n.888_889del (RPL5)
ENST00000470843.5:c.178_179del (RPL5)	ENSP00000473675.1:p.Ile60HisfsTer16
ENST00000615519.4:c.475-614_475-613del (DIPK1A)	ENSP00000483279.1:n.475-614_475-613del
ENST00000645119.1:c.178_179del (RPL5)	ENSP00000493811.1:p.Ile60HisfsTer?
ENST00000645300.1:c.28_29del (RPL5)	ENSP00000495589.1:p.Ile10HisfsTer?
ENST00000646852.1:n.207_208del (RPL5)