Canonical Allele Identifier: CA351582
Gene: SOX14 HGNC NCBI

Linked Data

ClinVar Variation Id: 221918
ClinVar RCV Id: RCV000207369
dbSNP Id: rs869025252
MyVariant Identifiers: chr3:g.137484348del (hg19) chr3:g.137765506del (hg38)
PubMed: PMID:26893459
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.137765507del , CM000665.2:g.137765507del GRCh38
NC_000003.11:g.137484349del , CM000665.1:g.137484349del GRCh37
NC_000003.10:g.138967039del NCBI36
NG_050752.1:g.6216del

Transcript Alleles

HGVS Amino-acid Change
ENST00000306087.3:c.723del MANE Select ENSP00000305343.1:p.Ter241TyrextTer?
ENST00000306087.2:c.723del ENSP00000305343.1:p.Ter241TyrextTer?
NM_004189.3:c.723del NP_004180.1:p.Ter241TyrextTer?
NM_004189.4:c.723del MANE Select NP_004180.1:p.Ter241TyrextTer?
Search 100 bp 5'
Search 100 bp 3'