Canonical Allele Identifier: CA2580062604
Gene: SELENON HGNC NCBI

Linked Data

ClinVar Variation Id: 1704255
ClinVar RCV Id: RCV002281602

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.25809051del , CM000663.2:g.25809051del GRCh38
NC_000001.10:g.26135542del , CM000663.1:g.26135542del GRCh37
NC_000001.9:g.26008129del NCBI36
NG_009930.1:g.13876del

Transcript Alleles

HGVS Amino-acid Change
ENST00000354177.9:c.646-44del ENSP00000346109.5:n.646-44del
ENST00000494537.2:c.671del ENSP00000508308.1:p.Met224SerfsTer8
ENST00000361547.7:c.773del MANE Select ENSP00000355141.2:p.Met258SerfsTer8
ENST00000354177.8:c.671del ENSP00000346109.4:p.Met224SerfsTer8
ENST00000361547.6:c.773del ENSP00000355141.2:p.Met258SerfsTer8
ENST00000374315.1:c.671del ENSP00000363434.1:p.Met224SerfsTer8
NM_020451.2:c.773del NP_065184.2:p.Met258SerfsTer8
NM_206926.1:c.671del NP_996809.1:p.Met224SerfsTer8
NM_020451.3:c.773del MANE Select NP_065184.2:p.Met258SerfsTer8
NM_206926.2:c.671del NP_996809.1:p.Met224SerfsTer8