Canonical Allele Identifier: CA2646597516

Gene: RPL5 DIPK1A

Linked Data

• gnomAD v4: 1-92837801-TCAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837804_92837807del , CM000663.2:g.92837804_92837807del	GRCh38
NC_000001.10:g.93303361_93303364del , CM000663.1:g.93303361_93303364del	GRCh37
NC_000001.9:g.93075949_93075952del	NCBI36
NG_011779.1:g.10768_10771del
NG_033051.1:g.128718_128721del
NG_011779.2:g.10819_10822del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+171_705+174del (RPL5) MANE Select	ENSP00000359345.2:n.705+171_705+174del
ENST00000645119.1:c.325-2747_325-2744del (RPL5)	ENSP00000493811.1:n.325-2747_325-2744del
ENST00000645300.1:c.555+171_555+174del (RPL5)	ENSP00000495589.1:n.555+171_555+174del
ENST00000370321.7:c.705+171_705+174del (RPL5)	ENSP00000359345.2:n.705+171_705+174del
ENST00000497519.1:n.1024+171_1024+174del (RPL5)
ENST00000615519.4:c.475-4771_475-4768del (DIPK1A)	ENSP00000483279.1:n.475-4771_475-4768del
NM_000969.3:c.705+171_705+174del (RPL5)	NP_000960.2:n.705+171_705+174del
NM_001252273.1:c.475-4771_475-4768del (DIPK1A)	NP_001239202.1:n.475-4771_475-4768del
NM_000969.5:c.705+171_705+174del (RPL5) MANE Select	NP_000960.2:n.705+171_705+174del
NR_146333.1:n.764+171_764+174del (RPL5)
NM_001252273.2:c.475-4771_475-4768del (DIPK1A)	NP_001239202.1:n.475-4771_475-4768del