Canonical Allele Identifier: CA2649433621
Gene: RNASEL HGNC NCBI

Linked Data

gnomAD v4: 1-182586286-TC-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.182586288del , CM000663.2:g.182586288del GRCh38
NC_000001.10:g.182555423del , CM000663.1:g.182555423del GRCh37
NC_000001.9:g.180822046del NCBI36
NG_009024.2:g.5687del

Transcript Alleles

HGVS Amino-acid Change
ENST00000367559.7:c.520del MANE Select ENSP00000356530.3:p.Asp174ThrfsTer8
ENST00000539397.1:c.520del ENSP00000440844.1:p.Asp174ThrfsTer8
NM_021133.3:c.520del NP_066956.1:p.Asp174ThrfsTer8
XM_005245411.2:c.520del XP_005245468.1:p.Asp174ThrfsTer8
XR_001737359.1:n.803del
XR_001737360.1:n.803del
NM_021133.4:c.520del MANE Select NP_066956.1:p.Asp174ThrfsTer8
Search 100 bp 5'
Search 100 bp 3'