Canonical Allele Identifier: CA892098744
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs1370860260
gnomAD v3: 1-182586306-TC-T
gnomAD v4: 1-182586306-TC-T
MyVariant Identifiers: chr1:g.182555442del (hg19) chr1:g.182586307del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586308del , CM000663.2:g.182586308del GRCh38
NC_000001.10:g.182555443del , CM000663.1:g.182555443del GRCh37
NC_000001.9:g.180822066del NCBI36
NG_009024.2:g.5667del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.500del MANE Select ENSP00000356530.3:p.Gly167GlufsTer15
ENST00000539397.1:c.500del ENSP00000440844.1:p.Gly167GlufsTer15
NM_021133.3:c.500del NP_066956.1:p.Gly167GlufsTer15
XM_005245411.2:c.500del XP_005245468.1:p.Gly167GlufsTer15
XR_001737359.1:n.783del
XR_001737360.1:n.783del
NM_021133.4:c.500del MANE Select NP_066956.1:p.Gly167GlufsTer15
Search 100 bp 5'
Search 100 bp 3'