Canonical Allele Identifier: CA130643
Gene: IGSF1 HGNC NCBI

Linked Data

ClinVar Variation Id: 39851
ClinVar RCV Id: RCV000033078
dbSNP Id: rs398122920
MyVariant Identifiers: chrX:g.130411917del (hg19) chrX:g.131277943del (hg38)
PubMed: PMID:23143598
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.131277943del , CM000685.2:g.131277943del GRCh38
NC_000023.10:g.130411917del , CM000685.1:g.130411917del GRCh37
NC_000023.9:g.130239598del NCBI36
NG_021190.2:g.126761del
NG_021190.3:g.305957del
NG_021190.4:g.305957del

Transcript Alleles

HGVS Amino-acid change
ENST00000361420.8:c.2233del MANE Select ENSP00000355010.3:p.Glu745LysfsTer28
ENST00000370903.8:c.2248del ENSP00000359940.3:p.Glu750LysfsTer28
ENST00000651402.1:c.10-3066del
ENST00000651526.1:n.635del
ENST00000651556.1:c.2233del ENSP00000498789.1:p.Glu745LysfsTer28
ENST00000652189.1:c.2233del ENSP00000498607.1:p.Glu745LysfsTer28
ENST00000361420.7:c.2233del ENSP00000355010.3:p.Glu745LysfsTer28
ENST00000370903.7:c.2248del ENSP00000359940.3:p.Glu750LysfsTer28
ENST00000370904.6:c.2206del ENSP00000359941.1:p.Glu736LysfsTer28
ENST00000370910.5:c.2206del ENSP00000359947.1:p.Glu736LysfsTer28
NM_001170961.1:c.2248del NP_001164432.1:p.Glu750LysfsTer28
NM_001170962.1:c.2206del NP_001164433.1:p.Glu736LysfsTer28
NM_001555.4:c.2233del NP_001546.2:p.Glu745LysfsTer28
XM_011531330.1:c.2248del XP_011529632.1:p.Glu750LysfsTer28
XM_011531331.1:c.2248del XP_011529633.1:p.Glu750LysfsTer28
XM_011531332.1:c.2248del XP_011529634.1:p.Glu750LysfsTer28
XM_011531333.1:c.2248del XP_011529635.1:p.Glu750LysfsTer28
XM_011531334.1:c.2248del XP_011529636.1:p.Glu750LysfsTer28
XM_011531335.1:c.475del XP_011529637.1:p.Glu159LysfsTer28
XM_011531333.2:c.2248del XP_011529635.1:p.Glu750LysfsTer28
XM_011531334.2:c.2248del XP_011529636.1:p.Glu750LysfsTer28
NM_001555.5:c.2233del MANE Select NP_001546.2:p.Glu745LysfsTer28
NM_001170962.2:c.2206del NP_001164433.1:p.Glu736LysfsTer28
NM_001170961.2:c.2248del NP_001164432.1:p.Glu750LysfsTer28
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