Canonical Allele Identifier: CA2649433617
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586285_182586288dup , CM000663.2:g.182586285_182586288dup GRCh38
NC_000001.10:g.182555420_182555423dup , CM000663.1:g.182555420_182555423dup GRCh37
NC_000001.9:g.180822043_180822046dup NCBI36
NG_009024.2:g.5687_5690dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.520_523dup MANE Select ENSP00000356530.3:p.Ala175GlyfsTer4
ENST00000539397.1:c.520_523dup ENSP00000440844.1:p.Ala175GlyfsTer4
NM_021133.3:c.520_523dup NP_066956.1:p.Ala175GlyfsTer4
XM_005245411.2:c.520_523dup XP_005245468.1:p.Ala175GlyfsTer4
XR_001737359.1:n.803_806dup
XR_001737360.1:n.803_806dup
NM_021133.4:c.520_523dup MANE Select NP_066956.1:p.Ala175GlyfsTer4