Canonical Allele Identifier: CA151133

Gene: ST14

Linked Data

• ClinVar Variation Id: 126420
• ClinVar RCV Id: RCV000114360
• dbSNP Id: rs587777263
• MyVariant Identifiers: chr11:g.130078344del (hg19) ; chr11:g.130208449del (hg38)
• PubMed: PMID:12207612 ; PMID:18843291

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.130208449del , CM000673.2:g.130208449del	GRCh38
NC_000011.9:g.130078344del , CM000673.1:g.130078344del	GRCh37
NC_000011.8:g.129583554del	NCBI36
NG_012132.1:g.53663del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000278742.6:c.2034del MANE Select	ENSP00000278742.5:p.Leu678PhefsTer?
ENST00000278742.5:c.2034del	ENSP00000278742.5:p.Leu678PhefsTer?
NM_021978.3:c.2034del	NP_068813.1:p.Leu678PhefsTer?
NM_021978.4:c.2034del MANE Select	NP_068813.1:p.Leu678PhefsTer?