Canonical Allele Identifier: CA696635

Gene: SELENON

Linked Data

• ClinVar Variation Id: 1323574
• ClinVar RCV Id: RCV002541163
• dbSNP Id: rs758934983
• ExAC: 1:26135512 CCCAGGTCATCATCCA / C
• gnomAD v2: 1-26135512-CCCAGGTCATCATCCA-C
• gnomAD v4: 1-25809021-CCCAGGTCATCATCCA-C
• MyVariant Identifiers: chr1:g.26135513_26135527del (hg19) ; chr1:g.25809022_25809036del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.25809024_25809038del , CM000663.2:g.25809024_25809038del	GRCh38
NC_000001.10:g.26135515_26135529del , CM000663.1:g.26135515_26135529del	GRCh37
NC_000001.9:g.26008102_26008116del	NCBI36
NG_009930.1:g.13849_13863del

Transcript Alleles

HGVS	Amino-acid change
ENST00000354177.9:c.646-71_646-57del	ENSP00000346109.5:n.646-71_646-57del
ENST00000494537.2:c.646-2_658del
ENST00000361547.7:c.748-2_760del
ENST00000354177.8:c.646-2_658del
ENST00000361547.6:c.748-2_760del
ENST00000374315.1:c.646-2_658del
NM_020451.2:c.748-2_760del
NM_206926.1:c.646-2_658del
NM_020451.3:c.748-2_760del
NM_206926.2:c.646-2_658del