Canonical Allele Identifier: CA645512405
Gene: SPEN HGNC NCBI

Linked Data

dbSNP Id: rs2071211979
COSMIC: COSM4746298
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.15930681_15930684del , CM000663.2:g.15930681_15930684del GRCh38
NC_000001.10:g.16257176_16257179del , CM000663.1:g.16257176_16257179del GRCh37
NC_000001.9:g.16129763_16129766del NCBI36
NG_050663.1:g.87818_87821del

Transcript Alleles

HGVS Amino-acid change
ENST00000438066.2:c.*5292_*5295del ENSP00000388021.2:n.*5292_*5295del
ENST00000704274.1:c.38_41del
ENST00000375759.8:c.4441_4444del MANE Select ENSP00000364912.3:p.Glu1481ArgfsTer14
ENST00000375759.7:c.4441_4444del ENSP00000364912.3:p.Glu1481ArgfsTer14
NM_015001.2:c.4441_4444del NP_055816.2:p.Glu1481ArgfsTer14
NM_015001.3:c.4441_4444del MANE Select NP_055816.2:p.Glu1481ArgfsTer14
Search 100 bp 5'
Search 100 bp 3'