Canonical Allele Identifier: CA527599579
Gene: RNASEL HGNC NCBI

Linked Data

dbSNP Id: rs1389481258
gnomAD v2: 1-182555436-G-GC
gnomAD v4: 1-182586301-G-GC
MyVariant Identifiers: chr1:g.182555436_182555437insC (hg19) chr1:g.182586301_182586302insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586305dup , CM000663.2:g.182586305dup GRCh38
NC_000001.10:g.182555440dup , CM000663.1:g.182555440dup GRCh37
NC_000001.9:g.180822063dup NCBI36
NG_009024.2:g.5672dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.505dup MANE Select ENSP00000356530.3:p.Ala169GlyfsTer9
ENST00000539397.1:c.505dup ENSP00000440844.1:p.Ala169GlyfsTer9
NM_021133.3:c.505dup NP_066956.1:p.Ala169GlyfsTer9
XM_005245411.2:c.505dup XP_005245468.1:p.Ala169GlyfsTer9
XR_001737359.1:n.788dup
XR_001737360.1:n.788dup
NM_021133.4:c.505dup MANE Select NP_066956.1:p.Ala169GlyfsTer9
Search 100 bp 5'
Search 100 bp 3'