Canonical Allele Identifier: CA343644880
Gene: RNASEL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586335_182586338del , CM000663.2:g.182586335_182586338del GRCh38
NC_000001.10:g.182555470_182555473del , CM000663.1:g.182555470_182555473del GRCh37
NC_000001.9:g.180822093_180822096del NCBI36
NG_009024.2:g.5637_5640del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.470_473del MANE Select ENSP00000356530.3:p.Thr157ArgfsTer7
ENST00000539397.1:c.470_473del ENSP00000440844.1:p.Thr157ArgfsTer7
NM_021133.3:c.470_473del NP_066956.1:p.Thr157ArgfsTer7
XM_005245411.2:c.470_473del XP_005245468.1:p.Thr157ArgfsTer7
XR_001737359.1:n.753_756del
XR_001737360.1:n.753_756del
NM_021133.4:c.470_473del MANE Select NP_066956.1:p.Thr157ArgfsTer7