Canonical Allele Identifier: CA740408683

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1262527646
• gnomAD v4: 1-92837753-TGTC-T
• MyVariant Identifiers: chr1:g.93303311_93303313del (hg19) ; chr1:g.92837754_92837756del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837754_92837756del , CM000663.2:g.92837754_92837756del	GRCh38
NC_000001.10:g.93303311_93303313del , CM000663.1:g.93303311_93303313del	GRCh37
NC_000001.9:g.93075899_93075901del	NCBI36
NG_011779.1:g.10718_10720del
NG_033051.1:g.128767_128769del
NG_011779.2:g.10769_10771del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.705+121_705+123del (RPL5) MANE Select	ENSP00000359345.2:n.705+121_705+123del
ENST00000645119.1:c.325-2797_325-2795del (RPL5)	ENSP00000493811.1:n.325-2797_325-2795del
ENST00000645300.1:c.555+121_555+123del (RPL5)	ENSP00000495589.1:n.555+121_555+123del
ENST00000645908.1:n.560_562del (RPL5)
ENST00000370321.7:c.705+121_705+123del (RPL5)	ENSP00000359345.2:n.705+121_705+123del
ENST00000497519.1:n.1024+121_1024+123del (RPL5)
ENST00000615519.4:c.475-4722_475-4720del (DIPK1A)	ENSP00000483279.1:n.475-4722_475-4720del
NM_000969.3:c.705+121_705+123del (RPL5)	NP_000960.2:n.705+121_705+123del
NM_001252273.1:c.475-4722_475-4720del (DIPK1A)	NP_001239202.1:n.475-4722_475-4720del
NM_000969.5:c.705+121_705+123del (RPL5) MANE Select	NP_000960.2:n.705+121_705+123del
NR_146333.1:n.764+121_764+123del (RPL5)
NM_001252273.2:c.475-4722_475-4720del (DIPK1A)	NP_001239202.1:n.475-4722_475-4720del