Canonical Allele Identifier: CA276995

Gene: SELENON

Linked Data

• ClinVar Variation Id: 212149
• ClinVar RCV Id: RCV000192616 ; RCV000599220 ; RCV003338457 ; RCV002517132
• dbSNP Id: rs797045950
• gnomAD v2: 1-26135595-G-GCCT
• gnomAD v3: 1-25809104-G-GCCT
• gnomAD v4: 1-25809104-G-GCCT
• MyVariant Identifiers: chr1:g.26135596_26135598dupCCT (hg19) ; chr1:g.26135595_26135596insCCT (hg19) ; chr1:g.25809105_25809107dupCCT (hg38) ; chr1:g.25809104_25809105insCCT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25809105_25809107dup , CM000663.2:g.25809105_25809107dup	GRCh38
NC_000001.10:g.26135596_26135598dup , CM000663.1:g.26135596_26135598dup	GRCh37
NC_000001.9:g.26008183_26008185dup	NCBI36
NG_009930.1:g.13930_13932dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000354177.9:c.656_658dup	ENSP00000346109.5:p.Ala219_Cys220insSer
ENST00000494537.2:c.725_727dup	ENSP00000508308.1:p.Ala242_Cys243insSer
ENST00000361547.7:c.827_829dup MANE Select	ENSP00000355141.2:p.Ala276_Cys277insSer
ENST00000354177.8:c.725_727dup	ENSP00000346109.4:p.Ala242_Cys243insSer
ENST00000361547.6:c.827_829dup	ENSP00000355141.2:p.Ala276_Cys277insSer
ENST00000374315.1:c.725_727dup	ENSP00000363434.1:p.Ala242_Cys243insSer
NM_020451.2:c.827_829dup	NP_065184.2:p.Ala276_Cys277insSer
NM_206926.1:c.725_727dup	NP_996809.1:p.Ala242_Cys243insSer
NM_020451.3:c.827_829dup MANE Select	NP_065184.2:p.Ala276_Cys277insSer
NM_206926.2:c.725_727dup	NP_996809.1:p.Ala242_Cys243insSer